Article
A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.
International journal of pediatric otorhinolaryngology - 1 Feb 2008
Alasti Fatemeh, Sanati Mohammad Hossein, Behrouzifard Amir Hossein, Sadeghi Abdorrahim, de Brouwer Arjan P M, Kremer Hannie, Smith Richard J H, Van Camp Guy
Abstract excerpt
Mutations in the TECTA gene result in sensorineural non-syndromic hearing impairment. TECTA-related deafness can be inherited autosomal dominantly (designated as DFNA8/12) or autosomal recessively (as DFNB21). The alpha-tectorin protein, which is encoded by the TECTA gene, is one of the major components of the tectorial membrane in the inner ear. Six mutations in the TECTA gene have already been reported in...
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