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Protein & Peptide Letters

Editor-in-Chief

ISSN (Print): 0929-8665
ISSN (Online): 1875-5305

Mini-Review Article

Triple-A Syndrome (TAS): An In-Depth Overview on Genetic and Phenotype Heterogeneity

Author(s): Gabriele Pogliaghi, Biagio Cangiano, Paolo Duminuco, Valeria Vezzoli* and Marco Bonomi

Volume 27, Issue 12, 2020

Page: [1192 - 1203] Pages: 12

DOI: 10.2174/0929866527666200613215449

Price: $65

Abstract

Triple-A Syndrome (TAS) is a rare autosomal recessive disorder characterized by three cardinal symptoms: alacrimia, achalasia and adrenal insufficiency due to ACTH insensitivity. Various progressive neurological abnormalities and skin changes have been described in association with the syndrome. The disease is caused by mutation in the AAAS gene on chromosome 12q13. Mutations in AAAS were identified in more than 90% of individuals and families with TAS. The protein encoded by AAAS was termed ALADIN and is part of the WD repeat family of proteins, that have been found to be involved in many different functions such as protein-protein interaction, RNA processing, cytoskeleton assembly, control of cell division, signal transduction and apoptosis. Immunohistochemical analysis showed that mutated or truncated ALADIN localizes to the cytoplasm rather than to the nuclear pore complex. The exact function of ALADIN and the mechanisms that lead to the ACTH-resistant adrenal phenotype remains largely unknown. Nonetheless, recent studies provided some insights on the role of ALADIN as a member of the Nuclear Pore Complex not only implicated in the import of proteins involved in DNA repair and oxidative stress homeostasis but also in the strengthening of the mitotic spindle assembly. Early identification of the syndrome is challenging, given the rarity of the condition and high phenotypic heterogeneity even among members of the same family. In this review, we aim to summarize the current knowledge of clinical and molecular profile of patients with TAS and recommendations for the diagnosis, management, and follow-up of patients.

Keywords: Triple-A Syndrome, AAAS gene, aladin, adrenal insufficiency, achalasia, alacrimia, 4A syndrome, 5A syndrome.

Graphical Abstract
[1]
Allgrove, J.; Clayden, G.S.; Grant, D.B.; Macaulay, J.C. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet, 1978, 1(8077), 1284-1286.
[http://dx.doi.org/10.1016/S0140-6736(78)91268-0] [PMID: 78049]
[2]
Polat, R.; Ustyol, A.; Tuncez, E.; Guran, T. A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia. J. Endocrinol. Invest., 2019. 43(2), 185-196.
[PMID: 31435881]
[3]
Roucher-Boulez, F.; Brac de la Perriere, A.; Jacquez, A.; Chau, D.; Guignat, L.; vial, C.; Morel, Y.; Nicolino, M.; Raverot, G.; Pugeat, M. Triple-A syndrome: A wide spectrum of adrenal dysfunction. Eur. J. Endocrinol., 2018, 178(3), 199-207.
[http://dx.doi.org/10.1530/EJE-17-0642] [PMID: 29237697]
[4]
Flokas, M.E.; Tomani, M.; Agdere, L.; Brown, B. Triple A syndrome (Allgrove syndrome): Improving outcomes with a multidisciplinary approach. Pediatric Health Med. Ther., 2019, 10, 99-106.
[http://dx.doi.org/10.2147/PHMT.S173081] [PMID: 31695556]
[5]
Kurnaz, E.; Duminuco, P.; Aycan, Z.; Savaş-Erdeve, Ş.; Muratoğlu Şahin, N.; Keskin, M.; Bayramoğlu, E.; Bonomi, M.; Çetinkaya, S. Clinical and genetic characterisation of a series of patients with triple A syndrome. Eur. J. Pediatr., 2018, 177(3), 363-369.
[http://dx.doi.org/10.1007/s00431-017-3068-8] [PMID: 29255950]
[6]
Huebner, A.; Elias, L.L.K.; Clark, A.J.L. ACTH resistance syndromes. J. Pediatr. Endocrinol. Metab., 1999, 12(Suppl. 1), 277-293.
[PMID: 10698592]
[7]
Dumic, M.; Barišic, N.; Kusec, V.; Stingl, K.; Skegro, M.; Stanimirovic, A.; Koehler, K.; Huebner, A. Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome. Eur. J. Pediatr., 2012, 171(10), 1453-1459.
[http://dx.doi.org/10.1007/s00431-012-1745-1] [PMID: 22538409]
[8]
Kallabi, F.; Belghuith, N.; Aloulou, H.; Kammoun, T.; Ghorbel, S.; Hajji, M.; Gallas, S.; Chemli, J.; Chabchoub, I.; Azzouz, H.; Ben Chehida, A.; Sfaihi, L.; Makni, S.; Amouri, A.; Keskes, L.; Tebib, N.; Ben Becher, S.; Hachicha, M.; Kamoun, H. Clinical and genetic characterization of 26 Tunisian patients with Allgrove syndrome. Arch. Med. Res., 2016, 47(2), 105-110.
[http://dx.doi.org/10.1016/j.arcmed.2016.04.004] [PMID: 27133709]
[9]
Patt, H.; Koehler, K.; Lodha, S.; Jadhav, S.; Yerawar, C.; Huebner, A.; Thakkar, K.; Arya, S.; Nair, S.; Goroshi, M.; Ganesh, H.; Sarathi, V.; Lila, A.; Bandgar, T.; Shah, N. Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature. Endocr. Connect., 2017, 6(8), 901-913.
[http://dx.doi.org/10.1530/EC-17-0255] [PMID: 29180348]
[10]
Kallabi, F.; Ben Rebeh, I.; Felhi, R.; Sellami, D.; Masmoudi, S.; Keskes, L.; Kamoun, H. Molecular analysis of libyan families with allgrove syndrome: Geographic expansion of the ancestral mutation c.1331+1G>A in North Africa. Horm. Res. Paediatr., 2016, 85(1), 18-21.
[http://dx.doi.org/10.1159/000441653] [PMID: 26595337]
[11]
Brooks, B.P.; Kleta, R.; Stuart, C.; Tuchman, M.; Jeong, A.; Stergiopoulos, S.G.; Bei, T.; Bjornson, B.; Russell, L.; Chanoine, J.P.; Tsagarakis, S.; Kalsner, L.; Stratakis, C. Genotypic heterogeneity and clinical phenotype in triple A syndrome: A review of the NIH experience 2000-2005. Clin. Genet., 2005, 68(3), 215-221.
[http://dx.doi.org/10.1111/j.1399-0004.2005.00482.x] [PMID: 16098009]
[12]
Prpic, I.; Huebner, A.; Persic, M.; Handschug, K.; Pavletic, M. Triple A syndrome: Genotype-phenotype assessment. Clin. Genet., 2003, 63(5), 415-417.
[http://dx.doi.org/10.1034/j.1399-0004.2003.00070.x] [PMID: 12752575]
[13]
Aragona, P.; Rania, L.; Roszkowska, A.M.; Puzzolo, D.; Micali, A.; Pisani, A.; Salzano, G.; Messina, M.F. 4A syndrome: Ocular surface investigation in an Italian young patient. BMC Ophthalmol., 2014, 14, 155.
[http://dx.doi.org/10.1186/1471-2415-14-155] [PMID: 25488127]
[14]
Babu, K.; Murthy, K.R.; Babu, N.; Ramesh, S. Triple A syndrome with ophthalmic manifestations in two siblings. Indian J. Ophthalmol., 2007, 55(4), 304-306.
[http://dx.doi.org/10.4103/0301-4738.33048] [PMID: 17595484]
[15]
Tibussek, D.; Ghosh, S.; Huebner, A.; Schaper, J.; Mayatepek, E.; Koehler, K. “Crying without tears” as an early diagnostic sign-post of triple A (Allgrove) syndrome: Two case reports. BMC Pediatr., 2018, 18(1), 6.
[http://dx.doi.org/10.1186/s12887-017-0973-y] [PMID: 29334914]
[16]
Brown, B.; Agdere, L.; Muntean, C.; David, K. Alacrima as a harbinger of adrenal insufficiency in a child with Allgrove (AAA) syndrome. Am. J. Case Rep., 2016, 17, 703-706.
[http://dx.doi.org/10.12659/AJCR.899546] [PMID: 27698338]
[17]
Brooks, B.P.; Kleta, R.; Caruso, R.C.; Stuart, C.; Ludlow, J.; Stratakis, C.A. Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: A case report. BMC Ophthalmol., 2004, 4, 7.
[http://dx.doi.org/10.1186/1471-2415-4-7] [PMID: 15217518]
[18]
Mullaney, P.B.; Weatherhead, R.; Millar, L.; Ayyash, I.I.; Ayberk, H.; Cai, F.; Risco, J.M. Keratoconjunctivitis sicca associated with achalasia of the cardia, adrenocortical insufficiency, and lacrimal gland degeneration: Keratoconjunctivitis sicca secondary to lacrimal gland degeneration may parallel degenerative changes in esophageal and adrenocortical function. Ophthalmology, 1998, 105(4), 643-650.
[http://dx.doi.org/10.1016/S0161-6420(98)94018-0] [PMID: 9544638]
[19]
Tsilou, E.; Stratakis, C.A.; Rubin, B.I.; Hay, B.N.; Patronas, N.; Kaiser-Kupfer, M.I. Ophthalmic manifestations of Allgrove syndrome: Report of a case. Clin. Dysmorphol., 2001, 10(3), 231-233.
[http://dx.doi.org/10.1097/00019605-200107000-00016] [PMID: 11446421]
[20]
Singh, A.; Shah, A. Esophageal achalasia and alacrima in siblings. Indian Pediatr., 2006, 43(2), 161-163.
[PMID: 16528113]
[21]
Thomas, R.J.; Sen, S.; Zachariah, N.; Chacko, J.; Mammen, K.E. Achalasia cardia in infancy and childhood: An Indian experience. J. R. Coll. Surg. Edinb., 1998, 43(2), 103-104.
[PMID: 9621534]
[22]
Walter, L.; Christa, E. Adrenal cortex and its disorders. In: Pediatric Endocrinology; Sperling M.A., Ed.; (4th ed), Elsevier Saunders: Philadelphia, 2014, pp. 471-535.
[23]
Furuzawa-Carballeda, J.; Torres-Landa, S.; Valdovinos, M.Á.; Coss-Adame, E.; Martín Del Campo, L.A.; Torres-Villalobos, G. New insights into the pathophysiology of achalasia and implications for future treatment. World J. Gastroenterol., 2016, 22(35), 7892-7907.
[http://dx.doi.org/10.3748/wjg.v22.i35.7892] [PMID: 27672286]
[24]
Hirano, M.; Furiya, Y.; Asai, H.; Yasui, A.; Ueno, S. ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome. Proc. Natl. Acad. Sci. USA, 2006, 103(7), 2298-2303.
[http://dx.doi.org/10.1073/pnas.0505598103] [PMID: 16467144]
[25]
Hallal, C.; Kieling, C.O.; Nunes, D.L.; Ferreira, C.T.; Peterson, G.; Barros, S.G.S.; Arruda, C.A.; Fraga, J.C.; Goldani, H.A.S. Diagnosis, misdiagnosis, and associated diseases of achalasia in children and adolescents: A twelve-year single center experience. Pediatr. Surg. Int., 2012, 28(12), 1211-1217.
[http://dx.doi.org/10.1007/s00383-012-3214-3] [PMID: 23135808]
[26]
Prasad, R.; Metherell, L.A.; Clark, A.J.; Storr, H.L. Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis. Endocrinology, 2013, 154(9), 3209-3218.
[http://dx.doi.org/10.1210/en.2013-1241] [PMID: 23825130]
[27]
Milenkovic, T.; Zdravkovic, D.; Savic, N.; Todorovic, S.; Mitrovic, K.; Koehler, K.; Huebner, A. Triple A syndrome: 32 years experience of a single centre (1977-2008). Eur. J. Pediatr., 2010, 169(11), 1323-1328.
[http://dx.doi.org/10.1007/s00431-010-1222-7] [PMID: 20499090]
[28]
Phillip, M.; Hershkovitz, E.; Schulman, H. Adrenal insufficiency after achalasia in the triple-A syndrome. Clin. Pediatr. (Phila.), 1996, 35(2), 99-100.
[http://dx.doi.org/10.1177/000992289603500208] [PMID: 8775483]
[29]
Zhang, Y.; Xu, C.D.; Zaouche, A.; Cai, W. Diagnosis and management of esophageal achalasia in children: Analysis of 13 cases. World J. Pediatr., 2009, 5(1), 56-59.
[http://dx.doi.org/10.1007/s12519-009-0010-9] [PMID: 19172334]
[30]
Kimber, J.; McLean, B.N.; Prevett, M.; Hammans, S.R. Allgrove or 4 “A” syndrome: An autosomal recessive syndrome causing multisystem neurological disease. J. Neurol. Neurosurg. Psychiatry, 2003, 74(5), 654-657.
[http://dx.doi.org/10.1136/jnnp.74.5.654] [PMID: 12700313]
[31]
Thomas, J.; Subramanyam, S.; Vijayaraghavan, S.; Bhaskar, E. Late onset adrenal insufficiency and achalasia in Allgrove syndrome. BMJ Case Rep., 2015, 2015, bcr2014208900.
[http://dx.doi.org/10.1136/bcr-2014-208900] [PMID: 25721836]
[32]
Salehi, M.; Houlden, H.; Sheikh, A.; Poretsky, L. The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN gene. Metabolism, 2005, 54(2), 200-205.
[http://dx.doi.org/10.1016/j.metabol.2004.08.013] [PMID: 15690314]
[33]
Kirkgoz, T.; Guran, T. Primary adrenal insufficiency in children: Diagnosis and management. Best Pract. Res. Clin. Endocrinol. Metab., 2018, 32(4), 397-424.
[http://dx.doi.org/10.1016/j.beem.2018.05.010] [PMID: 30086866]
[34]
Clark, A.J.; Weber, A. Adrenocorticotropin insensitivity syndromes. Endocr. Rev., 1998, 19(6), 828-843.
[http://dx.doi.org/10.1210/edrv.19.6.0351] [PMID: 9861547]
[35]
Collares, C.V.A.; Antunes-Rodrigues, J.; Moreira, A.C.; Franca, S.N.; Pereira, L.A.; Soares, M.M.S.; Elias Junior, J.; Clark, A.J.; de Castro, M.; Elias, L.L.K. Heterogeneity in the molecular basis of ACTH resistance syndrome. Eur. J. Endocrinol., 2008, 159(1), 61-68.
[http://dx.doi.org/10.1530/EJE-08-0079] [PMID: 18426811]
[36]
Jühlen, R.; Idkowiak, J.; Taylor, A.E.; Kind, B.; Arlt, W.; Huebner, A.; Koehler, K. Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis. PLoS One, 2015, 10(4), e0124582.
[http://dx.doi.org/10.1371/journal.pone.0124582] [PMID: 25867024]
[37]
Bornstein, S.R.; Allolio, B.; Arlt, W.; Barthel, A.; Don-Wauchope, A.; Hammer, G.D.; Husebye, E.S.; Merke, D.P.; Murad, M.H.; Stratakis, C.A.; Torpy, D.J. Diagnosis and treatment of primary adrenal insufficiency: An endocrine society clinical practice guideline. J. Clin. Endocrinol. Metab., 2016, 101(2), 364-389.
[http://dx.doi.org/10.1210/jc.2015-1710] [PMID: 26760044]
[38]
Vallet, A-E.; Verschueren, A.; Petiot, P.; Vandenberghe, N.; Nicolino, M.; Roman, S.; Pouget, J.; vial, C. Neurological features in adult triple-A (Allgrove) syndrome. J. Neurol., 2012, 259(1), 39-46.
[http://dx.doi.org/10.1007/s00415-011-6115-9] [PMID: 21656342]
[39]
Dixit, A.; Chow, G.; Sarkar, A. Neurologic presentation of triple A syndrome. Pediatr. Neurol., 2011, 45(5), 347-349.
[http://dx.doi.org/10.1016/j.pediatrneurol.2011.07.003] [PMID: 22000320]
[40]
Houlden, H.; Smith, S.; De Carvalho, M.; Blake, J.; Mathias, C.; Wood, N.W.; Reilly, M.M. Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain, 2002, 125(Pt 12), 2681-2690.
[http://dx.doi.org/10.1093/brain/awf270] [PMID: 12429595]
[41]
Salmaggi, A.; Zirilli, L.; Pantaleoni, C.; De Joanna, G.; Del Sorbo, F.; Koehler, K.; Krumbholz, M.; Huebner, A.; Rochira, V. Late-onset triple A syndrome: A risk of overlooked or delayed diagnosis and management. Horm. Res., 2008, 70(6), 364-372.
[PMID: 18953174]
[42]
Grant, D.B.; Barnes, N.D.; Dumic, M.; Ginalska-Malinowska, M.; Milla, P.J.; von Petrykowski, W.; Rowlatt, R.J.; Steendijk, R.; Wales, J.H.K.; Werder, E. Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome. Arch. Dis. Child., 1993, 68(6), 779-782.
[http://dx.doi.org/10.1136/adc.68.6.779] [PMID: 8333772]
[43]
Vezzoli, V.; Duminuco, P.; Pogliaghi, G.; Saccone, M.; Cangiano, B.; Rosatelli, M.C.; Meloni, A.; Persani, L.; Bonomi, M. Two novel truncating variants of the AAAS gene causative of the triple A syndrome. J. Endocrinol. Invest., 2020, 43(7), 973-982.
[http://dx.doi.org/10.1007/s40618-020-01180-1] [PMID: 31939195]
[44]
Fragoso, M.C.B.V.; Albuquerque, E.V.A.; Cardoso, A.L.A.; da Rosa, P.W.L.; de Paulo, R.B.; Schimizu, M.H.M.; Seguro, A.C.; Passarelli, M.; Koehler, K.; Huebner, A.; Almeida, M.Q.; Latronico, A.C.; Arnhold, I.J.P.; Mendonca, B.B. Triple A Syndrome: Preliminary response to the antioxidant N-acetylcysteine treatment in a child. Horm. Res. Paediatr., 2017, 88(2), 167-171.
[http://dx.doi.org/10.1159/000465520] [PMID: 28395280]
[45]
Melek, B.D.; Yacine, R.; Mehdi, D.; Badiaa, J. Dental involvement in a child with triple a syndrome. Int. J. Dent. Oral Sci., 2017, 6, 498-502.
[46]
Ozgen, A.G.; Ercan, E.; Ozütemiz, O.; Hamulu, F.; Bayraktar, F.; Yilmaz, C. The 4A syndrome association with osteoporosis. Endocr. J., 1999, 46(1), 227-230.
[http://dx.doi.org/10.1507/endocrj.46.227] [PMID: 10426592]
[47]
Khong, P.L.; Peh, W.C.; Low, L.C.; Leong, L.L. Variant of the Triple A syndrome. Australas. Radiol., 1994, 38(3), 222-224.
[http://dx.doi.org/10.1111/j.1440-1673.1994.tb00180.x] [PMID: 7945119]
[48]
Handschug, K.; Sperling, S.; Yoon, S.J.; Hennig, S.; Clark, A.J.; Huebner, A. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum. Mol. Genet., 2001, 10(3), 283-290.
[http://dx.doi.org/10.1093/hmg/10.3.283] [PMID: 11159947]
[49]
Stratakis, C.A.; Lin, J.P.; Pras, E.; Rennert, O.M.; Bourdony, C.J.; Chan, W.Y. Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers. Proc. Assoc. Am. Physicians, 1997, 109(5), 478-482.
[PMID: 9285947]
[50]
Weber, A.; Wienker, T.F.; Jung, M.; Easton, D.; Dean, H.J.; Heinrichs, C.; Reis, A.; Clark, A.J. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum. Mol. Genet., 1996, 5(12), 2061-2066.
[http://dx.doi.org/10.1093/hmg/5.12.2061] [PMID: 8968764]
[51]
Tullio-Pelet, A.; Salomon, R.; Hadj-Rabia, S.; Mugnier, C.; de Laet, M.H.; Chaouachi, B.; Bakiri, F.; Brottier, P.; Cattolico, L.; Penet, C.; Bégeot, M.; Naville, D.; Nicolino, M.; Chaussain, J.L.; Weissenbach, J.; Munnich, A.; Lyonnet, S. Mutant WD-repeat protein in triple-A syndrome. Nat. Genet., 2000, 26(3), 332-335.
[http://dx.doi.org/10.1038/81642] [PMID: 11062474]
[52]
Cho, A.R.; Yang, K.J.; Bae, Y.; Bahk, Y.Y.; Kim, E.; Lee, H.; Kim, J.K.; Park, W.; Rhim, H.; Choi, S.Y.; Imanaka, T.; Moon, S.; Yoon, J.; Yoon, S.K. Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome. Exp. Mol. Med., 2009, 41(6), 381-386.
[http://dx.doi.org/10.3858/emm.2009.41.6.043] [PMID: 19322026]
[53]
Li, X.; Ji, C.; Gu, J.; Xu, J.; Jin, Z.; Sun, L.; Zou, X.; Lin, Y.; Sun, R.; Wang, P.; Gu, S.; Mao, Y. Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS. Mol. Biol. Rep., 2005, 32(2), 127-131.
[http://dx.doi.org/10.1007/s11033-004-6939-9] [PMID: 16022285]
[54]
Kind, B.; Koehler, K.; Lorenz, M.; Huebner, A. The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope. Biochem. Biophys. Res. Commun., 2009, 390(2), 205-210.
[http://dx.doi.org/10.1016/j.bbrc.2009.09.080] [PMID: 19782045]
[55]
Yamazumi, Y.; Kamiya, A.; Nishida, A.; Nishihara, A.; Iemura, S.; Natsume, T.; Akiyama, T. The transmembrane nucleoporin NDC1 is required for targeting of ALADIN to nuclear pore complexes. Biochem. Biophys. Res. Commun., 2009, 389(1), 100-104.
[http://dx.doi.org/10.1016/j.bbrc.2009.08.096] [PMID: 19703420]
[56]
Jain, B.P.; Pandey, S. WD40 repeat proteins: Signalling scaffold with diverse functions. Protein J., 2018, 37(5), 391-406.
[http://dx.doi.org/10.1007/s10930-018-9785-7] [PMID: 30069656]
[57]
Rabut, G.; Doye, V.; Ellenberg, J. Mapping the dynamic organization of the nuclear pore complex inside single living cells. Nat. Cell Biol., 2004, 6(11), 1114-1121.
[http://dx.doi.org/10.1038/ncb1184] [PMID: 15502822]
[58]
Cronshaw, J.M.; Matunis, M.J. The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Proc. Natl. Acad. Sci. USA, 2003, 100(10), 5823-5827.
[http://dx.doi.org/10.1073/pnas.1031047100] [PMID: 12730363]
[59]
Krumbholz, M.; Koehler, K.; Huebner, A. Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation. Biochem. Cell Biol., 2006, 84(2), 243-249.
[http://dx.doi.org/10.1139/o05-198] [PMID: 16609705]
[60]
Storr, H.L.; Kind, B.; Parfitt, D.A.; Chapple, J.P.; Lorenz, M.; Koehler, K.; Huebner, A.; Clark, A.J.L. Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism. Mol. Endocrinol., 2009, 23(12), 2086-2094.
[http://dx.doi.org/10.1210/me.2009-0056] [PMID: 19855093]
[61]
Kind, B.; Koehler, K.; Krumbholz, M.; Landgraf, D.; Huebner, A. Intracellular ROS level is increased in fibroblasts of triple A syndrome patients. J. Mol. Med. (Berl.), 2010, 88(12), 1233-1242.
[http://dx.doi.org/10.1007/s00109-010-0661-y] [PMID: 20706703]
[62]
Jühlen, R.; Landgraf, D.; Huebner, A.; Koehler, K. Identification of a novel putative interaction partner of the nucleoporin ALADIN. Biol. Open, 2016, 5(11), 1697-1705.
[http://dx.doi.org/10.1242/bio.021162] [PMID: 27754849]
[63]
Carvalhal, S.; Ribeiro, S.A.; Arocena, M.; Kasciukovic, T.; Temme, A.; Koehler, K.; Huebner, A.; Griffis, E.R. The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation. Mol. Biol. Cell, 2015, 26(19), 3424-3438.
[http://dx.doi.org/10.1091/mbc.E15-02-0113] [PMID: 26246606]
[64]
Jühlen, R.; Landgraf, D.; Huebner, A.; Koehler, K. Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers. Cell Div., 2018, 13, 8.
[http://dx.doi.org/10.1186/s13008-018-0041-5] [PMID: 30455725]
[65]
Bitetto, G.; Ronchi, D.; Bonato, S.; Pittaro, A.; Compagnoni, G.M.; Bordoni, A.; Salani, S.; Frattini, E.; Lopez, G.; Cribiù, F.M.; Corti, S.; Comi, G.P.; Bresolin, N.; Di Fonzo, A. Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove syndrome. Hum. Mol. Genet., 2019, 28(23), 3921-3927.
[http://dx.doi.org/10.1093/hmg/ddz236] [PMID: 31600784]
[66]
Bizzarri, C.; Benevento, D.; Terzi, C.; Huebner, A.; Cappa, M. Triple A (Allgrove) syndrome: An unusual association with syringomyelia. Ital. J. Pediatr., 2013, 39, 39.
[http://dx.doi.org/10.1186/1824-7288-39-39] [PMID: 23800107]
[67]
Yang, H.; Zhang, H.; Lu, L.; Wang, O.; Xing, X.; Zhang, M.; Lu, Z. Clinical and genetic characterization of a Chinese patient with triple A syndrome and novel compound heterozygous mutations in the AAAS gene. J. Pediatr. Endocrinol. Metab., 2013, 26(3-4), 389-391.
[http://dx.doi.org/10.1515/jpem-2012-0284] [PMID: 23327820]
[68]
Mazzone, L.; Postorino, V.; De Peppo, L.; Vassena, L.; Fatta, L.; Armando, M.; Scirè, G.; Cappa, M.; Vicari, S. Longitudinal neuropsychological profile in a patient with triple a syndrome. Case Rep. Pediatr., 2013, 2013, 604921.
[http://dx.doi.org/10.1155/2013/604921] [PMID: 23691407]
[69]
Ikemoto, S.; Sakurai, K.; Kuwashima, N.; Saito, Y.; Miyata, I.; Katsumata, N.; Ida, H. A case of allgrove syndrome with a novel IVS7 +1 G>A mutation of the AAAS gene. Clin. Pediatr. Endocrinol., 2012, 21(1), 11-13.
[http://dx.doi.org/10.1297/cpe.21.11] [PMID: 23926405]
[70]
Ikeda, M.; Hirano, M.; Shinoda, K.; Katsumata, N.; Furutama, D.; Nakamura, K.; Ikeda, S.; Tanaka, T.; Hanafusa, T.; Kitajima, H.; Kohno, H.; Nakagawa, M.; Nakamura, Y.; Ueno, S. Triple A syndrome in Japan. Muscle Nerve, 2013, 48(3), 381-386.
[http://dx.doi.org/10.1002/mus.23770] [PMID: 23861206]
[71]
Marín, S.; Casano-Sancho, P.; Villarreal-Peña, N.; Sebastiani, G.; Pinillos, S.; Pérez-Dueñas, B.; Hwa, V.; Rosenfeld, R.G.; Ibáñez, L. Triple A syndrome in a patient with genetic growth hormone insensitivity: Phenotypic effects of two genetic disorders. Horm. Res. Paediatr., 2012, 77(1), 63-68.
[http://dx.doi.org/10.1159/000335235] [PMID: 22269647]
[72]
Papageorgiou, L.; Mimidis, K.; Katsani, K.R.; Fakis, G. The genetic basis of triple A (Allgrove) syndrome in a Greek family. Gene, 2013, 512(2), 505-509.
[http://dx.doi.org/10.1016/j.gene.2012.10.008] [PMID: 23073554]
[73]
Yassaee, V.R.; Soltani, Z.; Ardakani, B.M. Mutation spectra of the AAAS gene in Iranian families with Allgrove Syndrome. Arch. Med. Res., 2011, 42(2), 163-168.
[http://dx.doi.org/10.1016/j.arcmed.2011.02.006] [PMID: 21565631]
[74]
Dumić, M.; Barišić, N.; Rojnić-Putarek, N.; Kušec, V.; Stanimirović, A.; Koehler, K.; Huebner, A. Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy. Eur. J. Pediatr., 2011, 170(3), 393-396.
[http://dx.doi.org/10.1007/s00431-010-1314-4] [PMID: 20931227]
[75]
Wallace, I.R.; Hunter, S.J. AAA syndrome-adrenal insufficiency, alacrima and achalasia. QJM, 2012, 105(8), 803-804.
[http://dx.doi.org/10.1093/qjmed/hcr145] [PMID: 21865313]
[76]
Moschos, M.M.; Margetis, I.; Koehler, K.; Gatzioufas, Z.; Huebner, A. New ophthalmic features in a family with triple A syndrome. Int. Ophthalmol., 2011, 31(3), 239-243.
[http://dx.doi.org/10.1007/s10792-011-9450-z] [PMID: 21626165]
[77]
Kunte, H.; Nümann, A.; Ventz, M.; Siebert, E.; Harms, L. Wernicke’s encephalopathy in a patient with triple A (Allgrove) syndrome. J. Neurol., 2011, 258(10), 1882-1884.
[http://dx.doi.org/10.1007/s00415-011-6012-2] [PMID: 21445602]
[78]
Alhussaini, B.; Gottrand, F.; Goutet, J.M.; Scaillon, M.; Michaud, L.; Spyckerelle, C.; Viola, S.; Lamblin, M.D. Clinical and manometric characteristics of Allgrove syndrome. J. Pediatr. Gastroenterol. Nutr., 2011, 53(3), 271-274.
[http://dx.doi.org/10.1097/MPG.0b013e31821456ba] [PMID: 21865973]
[79]
Nakamura, K.; Yoshida, K.; Yoshinaga, T.; Kodaira, M.; Shimojima, Y.; Takei, Y.; Morita, H.; Kayanuma, K.; Ikeda, S. Adult or late-onset triple A syndrome: Case report and literature review. J. Neurol. Sci., 2010, 297(1-2), 85-88.
[http://dx.doi.org/10.1016/j.jns.2010.07.006] [PMID: 20674935]
[80]
Krull, I.; M-Woelfle, M.; Bärlocher, K.; Koehler, K.; Huebner, A.; Brändle, M. Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome. Exp. Clin. Endocrinol. Diabetes, 2010, 118(8), 530-536.
[http://dx.doi.org/10.1055/s-0030-1247516] [PMID: 20200814]
[81]
Palka, C.; Giuliani, R.; Brancati, F.; Mohn, A.; Di Muzio, A.; Calabrese, O.; Huebner, A.; De Grandis, D.; Chiarelli, F.; Ferlini, A.; Stuppia, L. Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. Clin. Genet., 2010, 77(3), 298-301.
[http://dx.doi.org/10.1111/j.1399-0004.2009.01348.x] [PMID: 20447142]
[82]
Luigetti, M.; Pizzuti, A.; Bartoletti, S.; Houlden, H.; Pirro, C.; Bottillo, I.; Madia, F.; Conte, A.; Tonali, P.A.; Sabatelli, M. Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency. J. Neurol. Sci., 2010, 290(1-2), 150-152.
[http://dx.doi.org/10.1016/j.jns.2009.12.005] [PMID: 20051279]
[83]
Villanueva-Mendoza, C.; artínez-Guzmán, O.; Rivera-Parra, D.; Zenteno, J.C. Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene. Ophthalmic Genet., 2009, 30(1), 45-49.
[http://dx.doi.org/10.1080/13816810802502962] [PMID: 19172511]
[84]
Huynh, T.; McGown, I.; Nyunt, O.; Cowley, D.; Harris, M.; Cotterill, A.M.; Leong, G.M. A novel V185DfsX4 mutation of the AAAS gene in a 2-year-old boy with triple a syndrome. Clin. Pediatr. Endocrinol., 2009, 18(2), 73-75.
[http://dx.doi.org/10.1297/cpe.18.73] [PMID: 24790383]
[85]
Messina, M.F.; Autunno, M.; Koehler, K.; Russo, M.; Arrigo, T.; Crisafulli, G.; Huebner, A.; De Luca, F. Upper and lower motor neuron involvement as presenting manifestation of Triple A syndrome. J. Endocrinol. Invest., 2009, 32(5), 482-483.
[http://dx.doi.org/10.1007/BF03346490] [PMID: 19794295]
[86]
Thümmler, S.; Huebner, A.; Baechler-Sadoul, E. Triple A syndrome: two novel mutations in the AAAS gene. BMJ Case Rep., 2009, 2009, bcr09.2008.0984.
[http://dx.doi.org/10.1136/bcr.09.2008.0984] [PMID: 21686524]
[87]
Toromanovic, A.; Tahirovic, H.; Milenkovic, T.; Koehler, K.; Kind, B.; Zdravkovic, D.; Hasanhodzic, M.; Huebner, A. Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome. Eur. J. Pediatr., 2009, 168(3), 317-320.
[http://dx.doi.org/10.1007/s00431-008-0758-2] [PMID: 18551317]
[88]
Milenković, T.; Koehler, K.; Krumbholz, M.; Zivanović, S.; Zdravković, D.; Huebner, A. Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation. Eur. J. Pediatr., 2008, 167(9), 1049-1055.
[http://dx.doi.org/10.1007/s00431-007-0640-7] [PMID: 18172684]
[89]
Koehler, K.; Brockmann, K.; Krumbholz, M.; Kind, B.; Bönnemann, C.; Gärtner, J.; Huebner, A. Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. Eur. J. Hum. Genet., 2008, 16(12), 1499-1506.
[http://dx.doi.org/10.1038/ejhg.2008.132] [PMID: 18628786]
[90]
Strauss, M.; Koehler, K.; Krumbholz, M.; Huebner, A.; Zierz, S.; Deschauer, M. Triple A syndrome mimicking ALS. Amyotroph. Lateral Scler., 2008, 9(5), 315-317.
[http://dx.doi.org/10.1080/17482960802259016] [PMID: 18615337]
[91]
Chang, A.J.; Kline, M.M.; Currie, Y.; Perez, M.O.; Hartiala, J.; Wijesuriya, H.; Buchanan, T.A.; Watanabe, R.M.; Allayee, H. Allgrove syndrome in a Mexican American family is caused by an ancestral mutation derived from North Africa. Clin. Genet., 2008, 73(4), 385-387.
[http://dx.doi.org/10.1111/j.1399-0004.2008.00965.x] [PMID: 18261130]
[92]
Buderus, S.; Utsch, B.; Huebner, A.; Lentze, M.J.; Roth, C. Dysphagia due to triple A syndrome: Successful treatment of achalasia by balloon dilatation. Exp. Clin. Endocrinol. Diabetes, 2007, 115(8), 533-536.
[http://dx.doi.org/10.1055/s-2007-973852] [PMID: 17853339]
[93]
Onat, A.M.; Pehlivan, Y.; Buyukhatipoglu, H.; Igci, Y.Z.; Okumus, S.; Arikan, C.; Oguzkan, S. Unusual presentation of triple A syndrome mimicking Sjögren’s syndrome. Clin. Rheumatol., 2007, 26(10), 1749-1751.
[http://dx.doi.org/10.1007/s10067-006-0498-5] [PMID: 17180297]
[94]
Qin, K.; Du, X.; Rich, B.H. An Alu-mediated rearrangement causing a 3.2kb deletion and a novel two base pair deletion in AAAS gene as the cause of triple A syndrome. Mol. Genet. Metab., 2007, 92(4), 359-363.
[http://dx.doi.org/10.1016/j.ymgme.2007.08.116] [PMID: 17911039]
[95]
Gilio, F.; Di Rezze, S.; Conte, A.; Frasca, V.; Iacovelli, E.; Marini Bettolo, C.; Gabriele, M.; Giacomelli, E.; Pizzuti, A.; Pirro, C.; Fattapposta, F.; Habib, F.I.; Prencipe, M.; Inghilleri, M. Case report of adult-onset Allgrove syndrome. Neurol. Sci., 2007, 28(6), 331-335.
[http://dx.doi.org/10.1007/s10072-007-0848-3] [PMID: 18175081]
[96]
Bustanji, H.; Sahar, B.; Huebner, A.; Ajlouni, K.; Landgraf, D.; Hamamy, H.; Koehler, K. Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty. J. Pediatr. Endocrinol. Metab., 2015, 28(7-8), 933-936.
[http://dx.doi.org/10.1515/jpem-2014-0401] [PMID: 25781531]
[97]
Mukhopadhya, A.; Danda, S.; Huebner, A.; Chacko, A. Mutations of the AAAS gene in an Indian family with Allgrove’s syndrome. World J. Gastroenterol., 2006, 12(29), 4764-4766.
[http://dx.doi.org/10.3748/wjg.v12.i29.4764] [PMID: 16937455]
[98]
Ismail, E.A.; Tulliot-Pelet, A.; Mohsen, A.M.; Al-Saleh, Q. Allgrove syndrome with features of familial dysautonomia: A novel mutation in the AAAS gene. Acta Paediatr., 2006, 95(9), 1140-1143.
[http://dx.doi.org/10.1080/08035250500538999] [PMID: 16938764]
[99]
Dusek, T.; Korsic, M.; Koehler, K.; Perkovic, Z.; Huebner, A.; Korsic, M. A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome. Horm. Res., 2006, 65(4), 171-176.
[PMID: 16543750]
[100]
Lam, Y.Y.; Lo, I.F.M.; Shek, C.C.; Tong, T.M.F.; Ng, D.K.K.; Tong, T.F.; Choi, M.S.; Lam, S.T.S.; Ho, C.S. Triple-A syndrome-the first Chinese patient with novel mutations in the AAAS gene. J. Pediatr. Endocrinol. Metab., 2006, 19(5), 765-770.
[http://dx.doi.org/10.1515/JPEM.2006.19.5.765] [PMID: 16789645]
[101]
Borhani Haghighi, A.; Houlden, H.; Lankarani, K.B.; Taghavi, A.; Masnadi, K.; Ashraf, A.R.; Safari, A. A novel DNA sequence variation in the first genetically confirmed allgrove syndrome in iran. J. Clin. Neuromuscul. Dis., 2006, 7(3), 123-127.
[http://dx.doi.org/10.1097/01.cnd.0000208261.93426.ab] [PMID: 19078797]
[102]
Iwanczak, F.; Smigiel, R.; Blitek, A.; Huebner, A. The triple “a” syndrome confirmed by molecular analysis: A case report of 7-year-old boy. J. Pediatr. Gastroenterol. Nutr., 2005, 40(1), 87-89.
[http://dx.doi.org/10.1097/00005176-200501000-00016] [PMID: 15625433]
[103]
Roman, S.; Nicolino, M.; Mion, F.; Tullio-Pelet, A.; Péré-Vergé, D.; Souquet, J.C. Triple-a syndrome: A rare etiology of adult achalasia. Dig. Dis. Sci., 2005, 50(3), 440-442.
[http://dx.doi.org/10.1007/s10620-005-2454-7] [PMID: 15810622]
[104]
Kinjo, S.; Takemoto, M.; Miyako, K.; Kohno, H.; Tanaka, T.; Katsumata, N. Two cases of Allgrove syndrome with mutations in the AAAS gene. Endocr. J., 2004, 51(5), 473-477.
[http://dx.doi.org/10.1507/endocrj.51.473] [PMID: 15516781]
[105]
Yuksel, B.; Braun, R.; Topaloglu, A.K.; Mungan, N.O.; Ozer, G.; Huebner, A. Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene. Horm. Res., 2004, 61(1), 3-6.
[PMID: 14646395]
[106]
Roubergue, A.; Apartis, E.; Vidailhet, M.; Mignot, C.; Tullio-Pelet, A.; Lyonnet, S.; de Villemeur, T.B. Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation. Mov. Disord., 2004, 19(3), 344-346.
[http://dx.doi.org/10.1002/mds.10660] [PMID: 15022193]
[107]
Hansen, M.L.; Frederiksen, A.L.; Juhl, C. Novel mutation in the AAAS gene in a severely affected triple-A syndrome patient. Endocrinol Metab Synd, 2015, 4, 3.
[108]
Barat, P.; Goizet, C.; Tullio-Pelet, A.; Puel, O.; Labessan, C.; Barthelemy, A. Phenotypic heterogeneity in AAAS gene mutation. Acta Paediatr., 2004, 93(9), 1257-1259.
[http://dx.doi.org/10.1111/j.1651-2227.2004.tb02760.x] [PMID: 15384895]
[109]
Reshmi-Skarja, S.; Huebner, A.; Handschug, K.; Finegold, D.N.; Clark, A.J.L.; Gollin, S.M. Chromosomal fragility in patients with triple A syndrome. Am. J. Med. Genet. A., 2003, 117A(1), 30-36.
[http://dx.doi.org/10.1002/ajmg.a.10846] [PMID: 12548737]
[110]
Goizet, C.; Catargi, B.; Tison, F.; Tullio-Pelet, A.; Hadj-Rabia, S.; Pujol, F.; Lagueny, A.; Lyonnet, S.; Lacombe, D. Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. Neurology, 2002, 58(6), 962-965.
[http://dx.doi.org/10.1212/WNL.58.6.962] [PMID: 11914417]
[111]
Katsumata, N.; Hirose, H.; Kagami, M.; Tanaka, T. Analysis of the AAAS gene in a Japanese patient with triple A syndrome. Endocr. J., 2002, 49(1), 49-53.
[http://dx.doi.org/10.1507/endocrj.49.49] [PMID: 12008750]
[112]
Schmittmann-Ohters, K.; Huebner, A.; Richter-Unruh, A.; Hauffa, B.P. Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome. Horm. Res., 2001, 56(1-2), 67-72.
[PMID: 11815731]
[113]
Sandrini, F.; Farmakidis, C.; Kirschner, L.S.; Wu, S.M.; Tullio-Pelet, A.; Lyonnet, S.; Metzger, D.L.; Bourdony, C.J.; Tiosano, D.; Chan, W.Y.; Stratakis, C.A. Spectrum of mutations of the AAAS gene in Allgrove syndrome: Lack of mutations in six kindreds with isolated resistance to corticotropin. J. Clin. Endocrinol. Metab., 2001, 86(11), 5433-5437.
[http://dx.doi.org/10.1210/jcem.86.11.8037] [PMID: 11701718]
[114]
Kallabi, F.; Ben Rhouma, B.; Baklouti, S.; Ghorbel, R.; Felhi, R.; Keskes, L.; Kamoun, H. Splicing defects in the AAAS gene leading to both exon skipping and partial intron retention in a tunisian patient with allgrove syndrome. Horm. Res. Paediatr., 2016, 86(2), 90-93.
[http://dx.doi.org/10.1159/000446539] [PMID: 27414811]
[115]
van Tellingen, V.; Finken, M.J.J.; Israëls, J.; Hendriks, Y.M.C.; Kamp, G.A.; van Santen, H.M. Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome. Horm. Res. Paediatr., 2016, 86(6), 420-424.
[http://dx.doi.org/10.1159/000446604] [PMID: 27255745]
[116]
Berrani, H.; Meskini, T.; Zerkaoui, M.; Merhni, H.; Ettair, S.; Sefiani, A.; Mouane, N. Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: A case report. BMC Pediatr., 2018, 18(1), 184.
[http://dx.doi.org/10.1186/s12887-018-1161-4] [PMID: 29866068]
[117]
Bouliari, A.; Lu, X.; Persky, R.W.; Stratakis, C.A. Triple A syndrome: Two siblings with a novel mutation in the AAAS gene. Hormones (Athens), 2019, 18(1), 109-112.
[http://dx.doi.org/10.1007/s42000-018-0089-2] [PMID: 30612286]
[118]
Sanghvi, J.; Asati, A.A.; Kumar, R.; Huebner, A. Novel mutations in a patient with triple a syndrome. Indian Pediatr., 2015, 52(9), 805-806.
[http://dx.doi.org/10.1007/s13312-015-0722-y] [PMID: 26519721]
[119]
Foster, C.; Choudhary, A. Severe malnutrition causing superior mesenteric artery syndrome in an adolescent with Triple A syndrome. J. Pediatr. Endocrinol. Metab., 2016, 29(10), 1221-1224.
[http://dx.doi.org/10.1515/jpem-2015-0373] [PMID: 27682707]
[120]
Leveille, E.; Gonorazky, H.D.; Rioux, M.F.; Hazrati, L.N.; Ruskey, J.A.; Carnevale, A.; Spiegelman, D.; Dionne-Laporte, A.; Rouleau, G.A.; Yoon, G.; Gan-Or, Z. Triple A syndrome presenting as complicated hereditary spastic paraplegia. Mol. Genet. Genomic Med., 2018, 6(6), 1134-1139.
[http://dx.doi.org/10.1002/mgg3.492] [PMID: 30381913]
[121]
Nakamura, J.; Hikichi, T.; Inoue, H.; Watanabe, K.; Kikuchi, H.; Takagi, T.; Suzuki, R.; Sugimoto, M.; Konno, N.; Waragai, Y.; Asama, H.; Takasumi, M.; Sato, Y.; Irie, H.; Obara, K.; Ohira, H. Per-oral endoscopic myotomy for esophageal achalasia in a case of Allgrove syndrome. Clin. J. Gastroenterol., 2018, 11(4), 273-277.
[http://dx.doi.org/10.1007/s12328-018-0819-7] [PMID: 29383495]
[122]
de Freitas, M.R.G.; Orsini, M.; Araújo, A.P.Q.C.; João Abraão, L.Jr; Barbosa, G.M.; França, M.C.; Correia, L.; Bastos, V.H.; Trajano, E.; da Sant’Anna, M.Jr. Allgrove syndrome and motor neuron disease. Neurol. Int., 2018, 10(2), 7436.
[http://dx.doi.org/10.4081/ni.2018.7436] [PMID: 30069287]
[123]
Reimann, J.; Kohlschmidt, N.; Tolksdorf, K.; Weis, J.; Kuchelmeister, K.; Roos, A. Muscle Pathology as a diagnostic clue to Allgrove syndrome. J. Neuropathol. Exp. Neurol., 2017, 76(5), 337-341.
[http://dx.doi.org/10.1093/jnen/nlx016] [PMID: 28371804]
[124]
Singh, K.; Puri, R.D.; Bhai, P.; Arya, A.D.; Chawla, G.; Saxena, R.; Verma, I.C. Clinical heterogeneity and molecular profile of triple A syndrome: A study of seven cases. J. Pediatr. Endocrinol. Metab., 2018, 31(7), 799-807.
[http://dx.doi.org/10.1515/jpem-2018-0023] [PMID: 29874194]
[125]
Li, W.; Gong, C.; Qi, Z.; Wu, D.I.; Cao, B. Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases. Exp. Ther. Med., 2015, 10(4), 1277-1282.
[http://dx.doi.org/10.3892/etm.2015.2677] [PMID: 26622478]
[126]
Zimmer, V.; Vanderwinden, J.M.; Zimmer, A.; Ostertag, D.; Strittmatter, M.; Koehler, K.; Huebner, A.; Lammert, F. Organ-specific neurodegeneration in Triple A syndrome-related Achalasia. Am. J. Med., 2015, 128(9), e9-e12.
[http://dx.doi.org/10.1016/j.amjmed.2015.04.025] [PMID: 26007668]
[127]
Cherif Ben Abdallah, L.; Lakhoua, Y.; Nagara, M.; Khiari, K.; Elouej, S.; Messaoud, O.; Bouyacoub, Y.; Romdhane, L.; Turki, Z.; Abdelhak, S.; Ben Abdallah, N. A Tunisian patient with two rare syndromes: Triple a syndrome and congenital hypogonadotropic hypogonadism. Horm. Res. Paediatr., 2014, 82(5), 338-343.
[http://dx.doi.org/10.1159/000365888] [PMID: 25247238]
[128]
Koehler, K.; Hackmann, K.; Landgraf, D.; Schubert, T.; Shakiba, M.; Kariminejad, A.; Huebner, A. Homozygous deletion of the entire AAAS gene in a triple A syndrome patient. Eur. J. Med. Genet., 2019, 62(7), 103665.
[http://dx.doi.org/10.1016/j.ejmg.2019.05.004] [PMID: 31071487]
[129]
Hancarova, M.; Simandlova, M.; Drabova, J.; Petrak, B.; Koudova, M.; Havlovicova, M.; Sedlacek, Z. Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes. Eur. J. Med. Genet., 2013, 56(3), 171-173.
[http://dx.doi.org/10.1016/j.ejmg.2012.12.003] [PMID: 23274590]
[130]
Hu, J.; Ou, Z.; Infante, E.; Kochmar, S.J.; Madan-Khetarpal, S.; Hoffner, L.; Parsazad, S.; Surti, U. Chromosome 12q13.13q13.13 microduplication and microdeletion: A case report and literature review. Mol. Cytogenet., 2017, 10, 24.
[http://dx.doi.org/10.1186/s13039-017-0326-4] [PMID: 28649281]
[131]
Jonsson, D.I.; Ludvigsson, P.; Aradhya, S.; Sigurdardottir, S.; Steinarsdottir, M.; Hauksdottir, H.; Jonsson, J.J. A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism. Eur. J. Med. Genet., 2012, 55(6-7), 437-440.
[http://dx.doi.org/10.1016/j.ejmg.2012.03.001] [PMID: 22534424]
[132]
Koehler, K.; Malik, M.; Mahmood, S.; Gießelmann, S.; Beetz, C.; Hennings, J.C.; Huebner, A.K.; Grahn, A.; Reunert, J.; Nürnberg, G.; Thiele, H.; Altmüller, J.; Nürnberg, P.; Mumtaz, R.; Babovic-Vuksanovic, D.; Basel-Vanagaite, L.; Borck, G.; Brämswig, J.; Mühlenberg, R.; Sarda, P.; Sikiric, A.; Anyane-Yeboa, K.; Zeharia, A.; Ahmad, A.; Coubes, C.; Wada, Y.; Marquardt, T.; Vanderschaeghe, D.; Van Schaftingen, E.; Kurth, I.; Huebner, A.; Hübner, C.A. Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. Am. J. Hum. Genet., 2013, 93(4), 727-734.
[http://dx.doi.org/10.1016/j.ajhg.2013.08.002] [PMID: 24035193]
[133]
Gold, W.A.; Sobreira, N.; Wiame, E.; Marbaix, A.; Van Schaftingen, E.; Franzka, P.; Riley, L.G.; Worgan, L.; Hübner, C.A.; Christodoulou, J.; Adès, L.C. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. Am. J. Med. Genet. A., 2017, 173(8), 2246-2250.
[http://dx.doi.org/10.1002/ajmg.a.38292] [PMID: 28574218]
[134]
Koehler, K.; Milev, M.P.; Prematilake, K.; Reschke, F.; Kutzner, S.; Jühlen, R.; Landgraf, D.; Utine, E.; Hazan, F.; Diniz, G.; Schuelke, M.; Huebner, A.; Sacher, M. A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. J. Med. Genet., 2017, 54(3), 176-185.
[http://dx.doi.org/10.1136/jmedgenet-2016-104108] [PMID: 27707803]
[135]
Huebner, A.; Mann, P.; Rohde, E.; Kaindl, A.M.; Witt, M.; Verkade, P.; Jakubiczka, S.; Menschikowski, M.; Stoltenburg-Didinger, G.; Koehler, K. Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome. Mol. Cell. Biol., 2006, 26(5), 1879-1887.
[http://dx.doi.org/10.1128/MCB.26.5.1879-1887.2006] [PMID: 16479006]
[136]
Jühlen, R.; Peitzsch, M.; Gärtner, S.; Landgraf, D.; Eisenhofer, G.; Huebner, A.; Koehler, K. Compensation for chronic oxidative stress in ALADIN null mice. Biol. Open, 2018, 7(1), 7.
[http://dx.doi.org/10.1242/bio.030742] [PMID: 29362278]
[137]
Clark, N.C.; Pru, C.A.; Yee, S.P.; Lydon, J.P.; Peluso, J.J.; Pru, J.K. Conditional ablation of progesterone receptor membrane component 2 causes female premature reproductive senescence. Endocrinology, 2017, 158(3), 640-651.
[PMID: 28005395]
[138]
DeRossi, C.; Vacaru, A.; Rafiq, R.; Cinaroglu, A.; Imrie, D.; Nayar, S.; Baryshnikova, A.; Milev, M.P.; Stanga, D.; Kadakia, D.; Gao, N.; Chu, J.; Freeze, H.H.; Lehrman, M.A.; Sacher, M.; Sadler, K.C. trappc11 is required for protein glycosylation in zebrafish and humans. Mol. Biol. Cell, 2016, 27(8), 1220-1234.
[http://dx.doi.org/10.1091/mbc.E15-08-0557] [PMID: 26912795]

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