Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics.
Ann Otol Rhinol Laryngol
; 124 Suppl 1: 148S-57S, 2015 May.
Article
en En
| MEDLINE
| ID: mdl-25999546
ABSTRACT
OBJECTIVES:
To elucidate the involvement of MYO6 mutations, known to be responsible for DFNA22/DFNB37, in Japanese hearing loss patients through the use of genetic analysis.METHODS:
Genomic variations responsible for hearing loss were identified by massively parallel DNA sequencing (MPS) of 63 target candidate genes in 1120 Japanese hearing loss patients, and the detailed clinical features for the patients with MYO6 mutations were collected and analyzed.RESULTS:
Four mutations were successfully found in 7 families exhibiting autosomal dominant inheritance. All of the patients showed progressive hearing loss, but hearing type and onset age varied. Further, none of the affected patients showed any associated symptoms, such as hypertrophic cardiomyopathy or retinitis pigmentosa.CONCLUSIONS:
MPS is powerful tool for the identification of rare causative deafness gene mutations, such as MYO6. The clinical characteristics noted in the present study not only confirmed the findings of previous reports but provided important new clinical information.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Análisis Mutacional de ADN
/
Codón sin Sentido
/
Cadenas Pesadas de Miosina
/
Mutación Missense
/
Pueblo Asiatico
/
Pérdida Auditiva
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Adult
/
Aged
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Ann Otol Rhinol Laryngol
Año:
2015
Tipo del documento:
Article
País de afiliación:
Japón