Your browser doesn't support javascript.
loading
Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss.
Freitas, Érika L; Oiticica, Jeanne; Silva, Amanda G; Bittar, Roseli S M; Rosenberg, Carla; Mingroni-Netto, Regina C.
Afiliación
  • Freitas ÉL; Department of Genetics and Evolutionary Biology, Institute of Bioscience, University of São Paulo, São Paulo, Brazil. Electronic address: erikafreitas@gmail.com.
  • Oiticica J; Department of Otolaryngology, Medical School, University of São Paulo, São Paulo, Brazil.
  • Silva AG; Department of Genetics and Evolutionary Biology, Institute of Bioscience, University of São Paulo, São Paulo, Brazil.
  • Bittar RS; Department of Otolaryngology, Medical School, University of São Paulo, São Paulo, Brazil.
  • Rosenberg C; Department of Genetics and Evolutionary Biology, Institute of Bioscience, University of São Paulo, São Paulo, Brazil.
  • Mingroni-Netto RC; Department of Genetics and Evolutionary Biology, Institute of Bioscience, University of São Paulo, São Paulo, Brazil.
Eur J Med Genet ; 57(4): 125-8, 2014 Mar.
Article en En | MEDLINE | ID: mdl-24556497
In 20% of cases, hereditary non-syndromic hearing loss has an autosomal dominant inheritance (ADNSHL). To date, more than 50 loci for ADNSHL have been mapped to different chromosomal regions. In order to verify whether genomic alterations contribute to the hearing loss etiology and to search for novel deafness candidate loci, we investigated probands from families with ADNSHL by oligonucleotide array-CGH. A deletion in the 5q32 region encompassing only one gene, POU4F3, which corresponds to DFNA15, was detected in one family. POU4F3 protein has an important role in the maturation, differentiation and survival of cochlear hair cells. Defects in these cells may therefore explain sensorineural hearing loss. Mutations in this gene have already been associated with autosomal dominant hearing loss but this is the first description of a germline POUF4F3 deletion associated with hearing impairment.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Eliminación de Gen / Proteínas de Homeodominio / Factor de Transcripción Brn-3C / Genes Dominantes / Pérdida Auditiva Sensorineural Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Eliminación de Gen / Proteínas de Homeodominio / Factor de Transcripción Brn-3C / Genes Dominantes / Pérdida Auditiva Sensorineural Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article Pais de publicación: Países Bajos