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 ?
Targeted Capture Sequencing of Deafness Genes. After excluding common mutations, the targeted deafness gene capture was conducted by BGI Inc.
The details of the deafness gene capture, sequencing, and bioinformatics analysis methods have been described in detail previously [7].
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.
They wondered if he, too, would be deaf, so they were tested and learned they both likely had a recessive "deafness gene." There was a one in four chance with each pregnancy their child may be deaf.
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.
Ethnic diversity of genetic variance has been reported in deafness gene CDH23 [4-8].
Yagi, "Identification of the protein product of the Coch gene (hereditary deafness gene) as the major component of bovine inner ear protein," Biochimica et Biophysica Acta (BBA)--Molecular Basis of Disease, vol.
Hence, the identification of novel deafness gene and the annotation thereafter are appreciated greatly in the research field and clinical community.
Mutation analysis of the common deafness genes in patients with nonsyndromic hearing loss in linyi by SNPscan assay.
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