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 ?

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

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

R276*) was identified in a Chinese HDR family 7121 by applying a combination of the target deafness genes capture and NGS.

Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome

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.

Short Communication - Genetic Screening of Neonates for 20 Most Common Mutations in Deafness Associated Genes in Anhui Province of China

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.

No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans

From deafness genes to hearing mechanisms: harmony and counterpoint," C.

Clinical and molecular-genetic investigation of non-syndromic hearing disorders in children of the Uzbek population

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.

Novel mouse model sheds light on causes of childhood deafness

Many HL genes have been identified since 1997 when the first dominant deafness genes were detected.

Genetics of hearing loss

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.

Non-syndromic Autosomal Recessive Deafness in Pakistani Population: Epidemiology and Genetics