Abstract
Background: Auditory Neuropathy Spectrum Disorder (ANSD) is manifested as impairment of auditory nerve activity but preservation of the outer hair cell function.
Objective: This study was to detect the disease-causing gene and variant(s) in a Chinese ANSD family.
Methods: A four-generation consanguineous Chinese ANSD family and 200 unrelated healthy controls were enrolled. Exome sequencing and Sanger sequencing were applied to identify the genetic basis for ANSD in this family.
Results: Exome sequencing detected a c.1236delC variant of the otoferlin gene in an apparently homozygous state. Sanger sequencing confirmed that the variant co-segregating with the phenotype of hearing impairments in this family. The variant was not detected in 200 healthy controls. The c.1236delC alteration may result in a truncated otoferlin missing the C2C-C2F domains and the Cterminal transmembrane domain, and thus severely damages Ca2+-dependent synaptic vesicle fusion and targeting function of the otoferlin.
Conclusion: Our study suggested that the c.1236delC alteration in the otoferlin gene may be the diseasecausing variant in this family, and also shed new light on genetic counseling to this ANSD family.
Keywords: Auditory neuropathy spectrum disorder, Exome sequencing, Hearing loss, Variant, The OTOF gene, ANSD family.
Current Genomics
Title:An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder
Volume: 19 Issue: 5
Author(s): Hong Xia, Xiangjun Huang, Hongbo Xu, Yi Guo, Pengzhi Hu, Xiong Deng, Zhijian Yang, An Liu and Hao Deng*
Affiliation:
- Center for Experimental Medicine and Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha,China
Keywords: Auditory neuropathy spectrum disorder, Exome sequencing, Hearing loss, Variant, The OTOF gene, ANSD family.
Abstract: Background: Auditory Neuropathy Spectrum Disorder (ANSD) is manifested as impairment of auditory nerve activity but preservation of the outer hair cell function.
Objective: This study was to detect the disease-causing gene and variant(s) in a Chinese ANSD family.
Methods: A four-generation consanguineous Chinese ANSD family and 200 unrelated healthy controls were enrolled. Exome sequencing and Sanger sequencing were applied to identify the genetic basis for ANSD in this family.
Results: Exome sequencing detected a c.1236delC variant of the otoferlin gene in an apparently homozygous state. Sanger sequencing confirmed that the variant co-segregating with the phenotype of hearing impairments in this family. The variant was not detected in 200 healthy controls. The c.1236delC alteration may result in a truncated otoferlin missing the C2C-C2F domains and the Cterminal transmembrane domain, and thus severely damages Ca2+-dependent synaptic vesicle fusion and targeting function of the otoferlin.
Conclusion: Our study suggested that the c.1236delC alteration in the otoferlin gene may be the diseasecausing variant in this family, and also shed new light on genetic counseling to this ANSD family.
Export Options
About this article
Cite this article as:
Xia Hong , Huang Xiangjun , Xu Hongbo , Guo Yi , Hu Pengzhi , Deng Xiong , Yang Zhijian , Liu An and Deng Hao *, An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder, Current Genomics 2018; 19 (5) . https://dx.doi.org/10.2174/1389202919666171113152951
DOI https://dx.doi.org/10.2174/1389202919666171113152951 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced Computational Algorithms and Artificial Intelligence in Clinical Pharmacogenomics
In the era of personalized medicine, understanding the relationship between genetics and drug response is crucial. This issue delves into innovative methodologies, leveraging deep computational analysis and artificial intelligence, to enhance the field of Clinical Pharmacogenomics. The interdisciplinary approach harnesses the power of advanced high-throughput genotyping technologies, sophisticated computational analysis, ...read more
Applications of Single-cell Sequencing Technology in Reproductive Medicine
Single cell sequencing (SCS) technology utilizes individual cells' genetic material to sequence their genome, transcriptome, and epigenetics at the molecular level. It offers insights into cell heterogeneity and enables the study of limited biological materials. Since its recognition as a valuable technique in 2011, single cell sequencing has yielded numerous ...read more
Big Data in Cancer Research
Cancer is a significant threat to human life and health, remaining a highly aggressive killer. It is a leading cause of death worldwide and represents a crucial medical issue for humanity. However, in the past decade, the effectiveness of new synthetic anticancer agents has not matched the current clinical speculation. ...read more
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Kynurenines and PACAP in Migraine: Medicinal Chemistry and Pathogenetic Aspects
Current Medicinal Chemistry Drug-Related Decrease in Neuropsychological Functions of Abstinent Drug Users
Current Drug Abuse Reviews Feline Immunodeficiency Virus Model for Designing HIV/AIDS Vaccines
Current HIV Research Midkine: A Promising Molecule for Drug Development to Treat Diseases of the Central Nervous System
Current Pharmaceutical Design Ophthalmological and Otological Manifestations in the Antiphospholipid Syndrome
Current Rheumatology Reviews Oligomerization of the Heptahelical G Protein Coupling Receptors: A Case for Association Using Transmembrane Helices (Supplimentry Material)
Mini-Reviews in Medicinal Chemistry Are Raw Scores on Memory Tests Better than Age- and Education- Adjusted Scores for Predicting Progression from Amnesic Mild Cognitive Impairment to Alzheimer Disease ?
Current Alzheimer Research Conference Proceedings: Second International Conference on Novel Psychoactive Substances (NPS) Swansea, UK; September 12-13th, 2013
Current Drug Abuse Reviews Repurposing of Anti-Diabetic Agents for the Treatment of Cognitive Impairment and Mood Disorders
Current Molecular Medicine Association Between Seizures and Diabetes Mellitus: A Comprehensive Review of Literature
Current Diabetes Reviews Advances in Drug Safety
Current Pharmaceutical Design Central Nervous System Abnormalities in Fibromyalgia and Chronic Fatigue Syndrome: New Concepts in Treatment
Current Pharmaceutical Design Different Food Odors Control Brain Connectivity in Impulsive Children
CNS & Neurological Disorders - Drug Targets Asthma in Childhood – Making the Diagnosis
Current Pediatric Reviews Do Histamine receptor 3 antagonists have a place in the therapy for schizophrenia?
Current Pharmaceutical Design Tinnitus and Anxiety: More than Meets the Ear
Current Psychiatry Reviews Neuro-Transmitters in the Central Nervous System & their Implication in Learning and Memory Processes
Current Medicinal Chemistry Alpha-7 Nicotinic Receptors in Nervous System Disorders: From Function to Therapeutic Perspectives
Central Nervous System Agents in Medicinal Chemistry Redox State, Oxidative Stress, and Molecular Mechanisms of Protective and Toxic Effects of Bilirubin on Cells
Current Pharmaceutical Design Glycine Reuptake Inhibition as a New Therapeutic Approach in Schizophrenia: Focus on the Glycine Transporter 1 (GlyT1)
Current Pharmaceutical Design