지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 1 - 6 (6page)
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Advances in molecular biology and molecular genetic technologies have revealed extreme etiologic heterogeneity of genetic hearing loss. Genes known to contribute to deafness have been reported to be involved with a variety of function and structures in the cochlea of the inner ear. Genetic alteration in deafness genes manifests hearing loss either in syndromic or in nonsyndromic forms, albeit much more frequently in latter forms. Molecular genetic diagnosis in this nonsyndromic hearing loss is challenging in majority of cases. GJB2 is the most frequent etiology of severe to profound nonsyndromic hearing loss in most of the ethnic backgrounds. When no potentially pathogenic GJB2 mutation is detected, characteristic audiogram profiles and radiologic markers help us to select next candidate deafness genes. Mutations in SLC26A4 and POU3F4 causes enlarged vestibular aqueduct and incomplete partition type III anomaly, respectively. TECTA, TMPRSS3, WFS1, COCH, KCNQ4 and DIAPH1 give rise to a characteristic audiologic configuration, if mutated. This phenotype-driven candidate gene approach has been successful not infrequently. With the advent of next generation sequencing technologies, molecular genetic diagnosis of hearing impaired subjects even without any characteristic markers is being widely tried. Targeted resequencing of known deafness genes appears to be effective in as high as 50-60% in making molecular genetic diagnosis at least for multiplex families where there are two or more affected hearing impaired subjects. Whole exome sequencing has been successful in revealing molecular genetic etiology anecdotally. More sophisticated pipeline and platform for revealing pathogenicity of detected variants both genetically and biologically is necessary to incorporate the advent of cutting edge sequencing technologies to the big step toward a personalized rehabilitation for hearing impaired subjects. Korean J Otorhinolaryngol-Head Neck Surg 2014;57:1-6
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참고문헌 (21)
참고문헌 신청
Cama E / 2009 / Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort. / Int J Audiol 48 (1) : 12 ~ 17
Choi BY / 2009 / Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coi
Choi BY / 2009 / Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. / Clin Genet 75 (3) : 237 ~ 243
Choi BY / 2009 / Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. / J Med Genet 46 (12) : 856 ~ 861
Denoyelle F / 1997 / Allen-Powell DR, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. / Hum Mol Genet 6 (12) : 2173 ~ 2177
Choi BY / 2009 / Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coi
Choi BY / 2009 / Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. / Clin Genet 75 (3) : 237 ~ 243
Choi BY / 2009 / Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. / J Med Genet 46 (12) : 856 ~ 861
Denoyelle F / 1997 / Allen-Powell DR, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. / Hum Mol Genet 6 (12) : 2173 ~ 2177
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