Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.
Ann Otol Rhinol Laryngol
; 124 Suppl 1: 111S-7S, 2015 May.
Article
em En
| MEDLINE
| ID: mdl-25780254
ABSTRACT
OBJECTIVES:
This study aims to document the clinical features of patients with COL11A2 mutations and to describe the usefulness of massively parallel sequencing.METHODS:
One thousand one hundred twenty (1120) Japanese hearing loss patients from 53 ENT departments nationwide participated in this study. Massively parallel sequencing of 63 genes implicated in hearing loss was performed to identify the genetic causes in the Japanese hearing loss patients.RESULTS:
A novel mutation in COL11A2 (c.3937_3948delCCCCCAGGGCCA) was detected in an affected family, and it was segregated in all hearing loss individuals. The clinical findings of this family were compatible with non-ocular Stickler syndrome. Orofacial features of mid-facial hypoplasia and slowly progressive mild to moderate hearing loss were also presented. Audiological examinations showed favorable auditory performance with hearing aid(s).CONCLUSION:
This is the first case report of the genetic diagnosis of a non-ocular Stickler syndrome family in the Japanese population. We suggest that it is important to take both genetic analysis data and clinical symptoms into consideration to make an accurate diagnosis.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Mutação de Sentido Incorreto
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Colágeno Tipo XI
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Sequenciamento de Nucleotídeos em Larga Escala
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Perda Auditiva
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Child
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Female
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Humans
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article