DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

MS Hildebrand; M Morín; NC Meyer; F Mayo; S Modamio-Hoybjor; A Mencía; L Olavarrieta; C Morales-Angulo; CJ Nishimura; H Workman; AP Deluca; I del Castillo; KR Taylor; B Tompkins; CW Goodman; I Schrauwen; MV Wesemael; K Lachlan; AE Shearer; TA Braun; PLM Huygen; H Kremer; G Van Camp; F Moreno; TL Casavant; RJH Smith; MA Moreno-Pelayo

Journal article

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

MS Hildebrand, M Morín, NC Meyer, F Mayo, S Modamio-Hoybjor, A Mencía, L Olavarrieta, C Morales-Angulo, CJ Nishimura, H Workman, AP Deluca, I del Castillo, KR Taylor, B Tompkins, CW Goodman, I Schrauwen, MV Wesemael, K Lachlan, AE Shearer, TA Braun Show all

Human Mutation | Published : 2011

DOI: 10.1002/humu.21512

Abstract

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 included in the screening. In an additional cohort of 835 American ADNSHL families, we preselected 73 probands for TECTA screening based on audiometric data. In aggregate, we identified 23 TECTA mutations in this process. Remarkably, 20 of these mutations are novel, more than doubling ..

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University of Melbourne Researchers

Michael Hildebrand Author

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Grants

Awarded by National Institute on Deafness and Other Communication Disorders

Funding Acknowledgements

Contract grant sponsor: NIH NIDCD; Contract grant number: R01 (DC003544 to R.J.H.S.); Contract grant sponsor: NHMRC Overseas Biomedical Postdoctoral Training Fellowship; Contract grant number: 546493 (to M.H.); Contract grant sponsors: Doris Duke Clinical Research Fellowship (to A.S.); NIH T32; Contract grant number: GM082729 (to A.P.D.); Contract grant sponsor: The Flemish FWO; Contract grant number: G0138.07 (to G.V.C.); Contract grant sponsor: Spanish Ministerio de Ciencia e Innovacion; Contract grant number: SAF2008-03216 (to F.M.); Contract grant sponsor: Spanish Fondo de Investigaciones Sanitarias; Contract grant number: PI08/0045 (to M.A.M.P.); Contract grant sponsor: The European Commission; Contract grant number: FP6 Integrated Project: EUROHEAR, LSHG-CT-2004-512063.