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Non-syndromic autosomal-dominant deafness
- Source :
- Clinical genetics. 62(1)
- Publication Year :
- 2002
-
Abstract
- 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.
- Subjects :
- Homeodomain Proteins
Extracellular Matrix Proteins
Membrane Glycoproteins
Potassium Channels
KCNQ Potassium Channels
Formins
Membrane Proteins
Deafness
Myosins
Collagen Type XI
GPI-Linked Proteins
Connexins
Transcription Factor Brn-3C
Genetic Heterogeneity
Receptors, Estrogen
Potassium Channels, Voltage-Gated
Trans-Activators
Humans
Carrier Proteins
Adaptor Proteins, Signal Transducing
Genes, Dominant
Transcription Factors
Subjects
Details
- ISSN :
- 00099163
- Volume :
- 62
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Clinical genetics
- Accession number :
- edsair.pmid..........b2231dfd85796c955908d1ce79136fec