Carrier frequency of SLC26A4 mutations causing inherited deafness in the Korean population
Journal of Genetic Medicine
; : 63-68, 2014.
Article
em En
| WPRIM
| ID: wpr-83557
Biblioteca responsável:
WPRO
ABSTRACT
PURPOSE: The mutation of the SLC26A4 gene is the second most common cause of congenital hearing loss after GJB2 mutations. It has been identified as a major cause of autosomal recessive nonsyndromic hearing loss associated with enlarged vestibular aqueduct and Pendred syndrome. Although most studies of SLC26A4 mutations have dealt with hearing-impaired patients, there are a few reports on the frequency of these mutations in the general population. The purpose of this study was to evaluate the prevalence of SLC26A4 mutations that cause inherited deafness in the general Korean population. MATERIALS AND METHODS: We obtained blood samples from 144 Korean individuals with normal hearing. The samples were subjected to polymerase chain reaction to amplify the entire coding region of the SLC26A4 gene, followed by direct DNA sequencing. RESULTS: Sequencing analysis of this gene identified 5 different variants (c.147C>G, c.225G>C, c.1723A>G, c.2168A>G, and c.2283A>G). The pathogenic mutation c.2168A>G (p.H723R) was identified in 1.39% (2/144) of the subjects with normal hearing. CONCLUSION: These data provide information about carrier frequency for SLC26A4 mutation-associated hearing loss and have important implications for genetic diagnostic testing for inherited deafness in the Korean population.
Palavras-chave
Texto completo:
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Base de dados:
WPRIM
Assunto principal:
Aqueduto Vestibular
/
Reação em Cadeia da Polimerase
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Prevalência
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Análise de Sequência de DNA
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Surdez
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Testes Diagnósticos de Rotina
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Codificação Clínica
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Audição
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Perda Auditiva
Tipo de estudo:
Prevalence_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article