Article
Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene.
Journal of the Association for Research in Otolaryngology : JARO - 1 Jun 2008
Moreno-Pelayo Miguel Angel, Goodyear Richard J, Mencía Angeles, Modamio-Høybjør Silvia, Legan P Kevin, Olavarrieta Leticia, Moreno Felipe, Richardson Guy P
Abstract excerpt
The TECTA gene encodes alpha-tectorin (TECTA), a major noncollagenous component of the tectorial membrane (TM). In humans, mutations in TECTA lead to either dominant (DFNA8/A12) or recessive (DFNB21) forms of nonsyndromic hearing loss. All missense mutations in TECTA that have been reported thus far are associated with the dominant subtype, whereas those leading to recessive deafness are all inactivating...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
