title: Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss.
abstract: 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.
authors.affiliation: Department of Genetics and Evolutionary Biology, Institute of Bioscience, University of São Paulo, São Paulo, Brazil. Electronic address: erikafreitas@gmail.com.
authors.forename: Érika L
authors.initials: ÉL
authors.lastname: Freitas
authors.affiliation: Department of Otolaryngology, Medical School, University of São Paulo, São Paulo, Brazil.
authors.forename: Jeanne
authors.initials: J
authors.lastname: Oiticica
authors.affiliation: Department of Genetics and Evolutionary Biology, Institute of Bioscience, University of São Paulo, São Paulo, Brazil.
authors.forename: Amanda G
authors.initials: AG
authors.lastname: Silva
authors.affiliation: Department of Otolaryngology, Medical School, University of São Paulo, São Paulo, Brazil.
authors.forename: Roseli S M
authors.initials: RS
authors.lastname: Bittar
authors.affiliation: Department of Genetics and Evolutionary Biology, Institute of Bioscience, University of São Paulo, São Paulo, Brazil.
authors.forename: Carla
authors.initials: C
authors.lastname: Rosenberg
authors.affiliation: Department of Genetics and Evolutionary Biology, Institute of Bioscience, University of São Paulo, São Paulo, Brazil.
authors.forename: Regina C
authors.initials: RC
authors.lastname: Mingroni-Netto
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D005799:Genes, Dominant; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D050821:Transcription Factor Brn-3C / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C111223:POU4F3 protein, human; D050821:Transcription Factor Brn-3C
keywords: 5q32 deletion; ADNSHL; Autosomal dominant non-syndromic hearing loss; DFNA15; POU4F3