Nonsyndromal/Nonsyndromic Deafness
Reference work entry
DOI: https://doi.org/10.1007/3-540-29623-9_8027
Definition
Nonsyndromic/nonsyndromal deafness is a hereditary autosomal hearing loss that is not associated with other signs and symptoms. (In contrast, “syndromic deafness” includes forms of hearing loss that are part of genetic syndromes which also affect other parts of the body.) The different types of nonsyndromic deafness are named according to their inheritance patterns. More than 30 genes that, when mutated, can cause nonsyndromic deafness. One form is caused by mutations in the gene GJB2 that encodes for connexin 26, which is expressed in the cochlear and vestibular regions of the ear.
Copyright information
© Springer-Verlag 2005