deafness gene

deafness gene

A gene which, when mutated, leads to deafness. A mutated gene for CONNEXIN-26, for instance, can cause sensorineural deafness, as can a gene mutation leading to a defect in early development of the parts of the embryo (the branchial arches) that include the ears. Such mutations give rise to various craniofacial defects, of which the Treacher Collins Syndrome is one of the best known, that may lead to conductive hearing loss. Recessive sensorineural hearing loss can also be caused by a homozygous mutation in the gene CDH 23 which codes for CADHERIN 23.
References in periodicals archive ?
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.
Since the two members of a deaf couple generally owe their hearing loss to different genes, assortative mating creates a nightmare for geneticists trying to track a single deafness gene through a family's history, a useful step in finding its chromosomal location.
The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells.
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.
R276*) was identified in a Chinese HDR family 7121 by applying a combination of the target deafness genes capture and NGS.
In China, previous epidemiological data showed that GJB2, SLC26A4, and mitochondrial 12SrRNA are the three most common deafness genes and account for 40% of the patients with hereditary hearing loss (Ouyang et al.
Sequencing ofGJB2in Cameroonians and black South Africans and comparison to 100 Genomes Project data support the need to revise strategy for discovery of nonsyndromic deafness genes in Africans.
Over half the cases of childhood deafness are estimated to be due to defects in just one gene passed from either the mother or father, and many of these deafness genes have been identified.
Many HL genes have been identified since 1997 when the first dominant deafness genes were detected.
Identification of deafness genes and functional analysis of the proteins they encode is playing a very important role in our understanding of the process of the auditory functions (Kalay et al.
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