ROSELI SARAIVA MOREIRA BITTAR
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
LIM/32 - Laboratório de Otorrinolaringologia, Hospital das Clínicas, Faculdade de Medicina
LIM/32 - Laboratório de Otorrinolaringologia, Hospital das Clínicas, Faculdade de Medicina
2 resultados
Resultados de Busca
Agora exibindo 1 - 2 de 2
- Otoneurological evaluation: current good practice(2014) GONCALVES, Denise Utsch; GANANCA, Fernando Freitas; BOTTINO, Marco Aurelio; GRETERS, Mario Edvin; GANANCA, Mauricio Malavasi; MEZZALIRA, Raquel; BITTAR, Roseli Saraiva Moreira; ALBERTINO, Sergio
- Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss(2014) FREITAS, Erika L.; OITICICA, Jeanne; SILVA, Amanda G.; BITTAR, Roseli S. M.; ROSENBERG, Carla; MINGRONI-NETTO, Regina C.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.