Carrier frequency of SLC26A4 mutations causing inherited deafness in the Korean population

• 발행기관: 대한의학유전학회
• 저자명: Hyo gyeong Kim Hwan Sub Lim Jae Song Ryu Hyun Chul Kim Sang hoo Lee Yun Tae Kim Young Jin Kim Kyoung Ryul Lee Hong Joon Park Sung Hee Han
• 간행물 정보: 『대한의학유전학회지』제11권 제2호, 63~68쪽, 전체 6쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2014.12.30

영문 초록

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.

목차

Abstract

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Materials and Methods

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키워드

SLC26A4 Hearing loss Carrier frequency