Article
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
Human mutation - 1 Jul 2011
Hildebrand Michael S, Morín Matías, Meyer Nicole C, Mayo Fernando, Modamio-Hoybjor Silvia, Mencía Angeles, Olavarrieta Leticia, Morales-Angulo Carmelo, Nishimura Carla J, Workman Heather, DeLuca Adam P, del Castillo Ignacio, Taylor Kyle R, Tompkins Bruce, Goodman Corey W, Schrauwen Isabelle, Wesemael Maarten Van, Lachlan K, Shearer A Eliot, Braun Terry A, Huygen Patrick L M, Kremer Hannie, Van Camp Guy, Moreno Felipe, Casavant Thomas L, Smith Richard J H, Moreno-Pelayo Miguel A
Abstract excerpt
The prevalence of DFNA8/DFNA12 (DFNA8/12), a type of autosomal dominant nonsyndromic hearing loss (ADNSHL), is unknown as comprehensive population-based genetic screening has not been conducted. We therefore completed unbiased screening for TECTA mutations in a Spanish cohort of 372 probands from ADNSHL families. Three additional families (Spanish, Belgian, and English) known to be linked to DFNA8/12 were also...
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