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.

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