Non-syndromic autosomal-dominant deafness

Non‐syndromic deafness is a paradigm of genetic heterogeneity. More than 70 loci have been mapped, and 25 of the nuclear genes responsible for non‐syndromic deafness have been identified. Autosomal‐dominant genes are responsible for about 20% of the cases of hereditary non‐syndromic deafness, with 1...

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Bibliographic Details
Published in:Clinical genetics 2002-07, Vol.62 (1), p.1-13
Main Author: Petersen, MB
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing
autosomal dominant
Biological and medical sciences
Carrier Proteins - genetics
Collagen Type XI - genetics
Connexins - genetics
deafness
Deafness - genetics
Deafness - physiopathology
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Extracellular Matrix Proteins - genetics
gene mapping
Genes, Dominant
Genetic Heterogeneity
GPI-Linked Proteins
Homeodomain Proteins - genetics
Humans
KCNQ Potassium Channels
Medical sciences
Membrane Glycoproteins - genetics
Membrane Proteins - genetics
Myosins - genetics
Non tumoral diseases
non-syndromic
Otorhinolaryngology. Stomatology
Potassium Channels - genetics
Potassium Channels, Voltage-Gated
Receptors, Estrogen
Trans-Activators - genetics
Transcription Factor Brn-3C
Transcription Factors - genetics
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Summary:Non‐syndromic deafness is a paradigm of genetic heterogeneity. More than 70 loci have been mapped, and 25 of the nuclear genes responsible for non‐syndromic deafness have been identified. Autosomal‐dominant genes are responsible for about 20% of the cases of hereditary non‐syndromic deafness, with 16 different genes identified to date. In the present article we review these 16 genes, their function and their contribution to deafness in different populations. The complexity is underlined by the fact that several of the genes are involved in both dominant and recessive non‐syndromic deafness or in both non‐syndromic and syndromic deafness. Mutations in eight of the genes have so far been detected in only single dominant deafness families, and their contribution to deafness on a population base might therefore be limited, or is currently unknown. Identification of all genes involved in hereditary hearing loss will help in the understanding of the basic mechanisms underlying normal hearing, will facilitate early diagnosis and intervention and might offer opportunities for rational therapy.
ISSN:0009-9163
1399-0004
DOI:10.1034/j.1399-0004.2002.620101.x