Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss.
J Hum Genet
; 62(2): 317-320, 2017 Feb.
Article
em En
| MEDLINE
| ID: mdl-27535032
ABSTRACT
Hearing impairment, or deafness (in its most severe form), is one of the most common human sensory disorders. There have been several reports of autosomal dominant mutations in the POU4F3 gene, which is associated with non-syndromic hearing loss. In this study, we identified a novel heterozygous mutation (c.602delT, p.L201fs) in the gene POU4F3 by taking advantage of whole-exome sequencing, which was validated by Sanger sequencing and completely co-segregated within a large hearing impaired Chinese family. We have focused on this pedigree since 2002, and we have mapped a deafness locus named DFNA42 (which has been renamed DFNA52, OMIM entry 607683) via a genome-wide scan. Furthermore, we analyzed this mutational variant and found that it was located at the beginning of the first functional domain of POU4F3, which could theoretically impair the function of POU4F3. We have identified a novel frameshift mutation in the POU4F3 gene. Further functional studies of variants of this specific gene are needed to illustrate the pathogenic mechanism(s) that underlie hearing impairment.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Mutação da Fase de Leitura
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Proteínas de Homeodomínio
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Fator de Transcrição Brn-3C
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Perda Auditiva Neurossensorial
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
J Hum Genet
Ano de publicação:
2017
Tipo de documento:
Article