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.

Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

References in periodicals archive ?

Targeted Capture Sequencing of Deafness Genes. After excluding common mutations, the targeted deafness gene capture was conducted by BGI Inc.

Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

The details of the deafness gene capture, sequencing, and bioinformatics analysis methods have been described in detail previously [7].

Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment

Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families.

Role of connexin 26 (GJB2) & mitochondrial small ribosomal RNA (mt 12S rRNA) genes in sporadic & aminoglycoside-induced non syndromic hearing impairment

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.

Genetic factors that might lead to different responses in individuals exposed to perchlorate

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.

Echoes of silence: after the birth of their first deaf daughter, never in a million years would the Hall family expect another deaf child, much less twins

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.

Genes of silence: scientists track down a slew of mutated genes that cause deafness

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells.

Multiple myosin motors and mechanoelectrical transduction by hair cells

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment

Ethnic diversity of genetic variance has been reported in deafness gene CDH23 [4-8].

Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss

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.

Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH

Hence, the identification of novel deafness gene and the annotation thereafter are appreciated greatly in the research field and clinical community.

Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome

Mutation analysis of the common deafness genes in patients with nonsyndromic hearing loss in linyi by SNPscan assay.

Novel deleterious mutation in MYO7A, TH and EVC2 in two Pakistani brothers with familial deafness