A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.

Yariz, K O; Walsh, T; Akay, H; Duman, D; Akkaynak, A C; King, M-C; Tekin, M

Yariz, K O; Walsh, T; Akay, H; Duman, D; Akkaynak, A C; King, M-C; Tekin, M.

Afiliación

Yariz KO; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.

Clin Genet ; 81(3): 289-93, 2012 Mar.

Article en En | MEDLINE | ID: mdl-21348867

RESUMEN

Hereditary deafness is a genetically heterogeneous phenotype for which more than 100 genomic loci have been identified thus far. By analysis of a consanguineous Palestinian family, GPSM2 was recently discovered to be the cause of autosomal recessive non-syndromic hearing loss DFNB82. Here, we report a second truncating mutation, GPSM2 p.Q562X, identified via autozygosity mapping in a consanguineous Turkish family. This report provides evidence for allelic heterogeneity of GPSM2 and confirms its causative role for non-syndromic deafness.

Asunto(s)

Pérdida Auditiva/genética; Péptidos y Proteínas de Señalización Intracelular/genética; Mutación; Consanguinidad; Femenino; Genes Recesivos; Genotipo; Homocigoto; Humanos; Masculino; Polimorfismo de Nucleótido Simple; Turquía

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Péptidos y Proteínas de Señalización Intracelular / Pérdida Auditiva / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Clin Genet Año: 2012 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Dinamarca

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