Current Molecular Medicine

David W. Li  
College of Medicine
University of Nebraska Medical Center
Omaha, NE
USA

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Homeobox Genes and Human Genetic Disorders

Author(s): Yangu Zhao and Heiner Westphal

Affiliation: Laboratory of Mammalian Genes and Development, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-2790, USA

Keywords: Homeobox Genes, Human Genetic Disorders, Bicoid, Dlx3 gene, Emx2 gene, Hox genes, Lim-homeobox gene, Msx genes, Nkx2-5 gene, Paired homeobox genes

Abstract:

Homeobox genes encode transcriptional regulators of embryonic development. Many genetic disorders affecting multiple organ systems have been associated with a diverse array of mutations in one or another of at least 27 different members of this gene family. We briefly describe the affected genes and the major phenotypes presented by the patients that carry the mutations. Although cause-and-effect relationships are difficult to prove in human genetics, there is little doubt that the observed mutations play a crucial role in the etiology of the associated disorders. The impressive wealth of collected data greatly benefits genetic counseling and stimulates efforts to develop novel avenues of targeted therapy

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Article Details

VOLUME: 2
ISSUE: 1
Page: [13 - 23]
Pages: 11
DOI: 10.2174/1566524023363077