Genes responsible for human hereditary deafness: symphony of a thousand
- 1 December 1996
- journal article
- review article
- Published by Springer Nature in Nature Genetics
- Vol. 14 (4) , 385-391
- https://doi.org/10.1038/ng1296-385
Abstract
Hearing loss is the most frequent sensory defect in humans. Dozens of genes may be responsible for the early onset forms of isolated deafness and several hundreds of syndromes with hearing loss have been described. Both the difficulties encountered by linkage analysis in families affected by isolated deafness and the paucity of data concerning the molecular components specifically involved in the peripheral auditory process, have long hampered the identification of genes responsible for hereditary hearing loss. Rapid progress is now being made in both fields. This should allow completion of major pieces of the jigsaw for understanding the development and function of the ear.Keywords
This publication has 89 references indexed in Scilit:
- Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian familyHuman Molecular Genetics, 1996
- Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cellsHuman Molecular Genetics, 1996
- Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22Human Molecular Genetics, 1996
- A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness geneHuman Molecular Genetics, 1996
- Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3Nature Genetics, 1996
- The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cellsNature Genetics, 1995
- A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locusHuman Molecular Genetics, 1995
- A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3Human Molecular Genetics, 1995
- Defective myosin VIIA gene responsible for Usher syndrome type IBNature, 1995
- Identification of a 120 kd hair-bundle myosin located near stereociliary tipsNeuron, 1993