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
- 저널정보
- 대한이비인후과학회 Clinical and Experimental Otorhinolaryngology Clinical and Experimental Otorhinolaryngology 제10권 제1호
- 발행연도
- 2017.1
- 수록면
- 50 - 55 (6page)
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초록· 키워드
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Objectives. We aimed to identify the causative mutation for siblings in a Korean family with nonsyndromic hearing loss (HL) and enlarged vestibular aqueduct (EVA). The siblings were a 19-year-old female with bilateral profound HL and an 11-year-old male with bilateral moderately severe HL.
Methods. We extracted genomic DNA from blood samples of the siblings with HL, their parents, and 100 controls. We performed mutation analysis for SLC26A4 using direct sequencing.
Results. The two siblings were compound heterozygotes with the novel mutation p.I713LfsX8 and the previously described mutation p.H723R. Their parents had heterozygous mono-allelic mutations. Father had p.I713LfsX8 mutation as heterozygous, and mother had p.H723R mutation as heterozygous. However, novel mutation p.I713LfsX8 was not detected in 100 unrelated controls.
Conclusion. Both mutations identified in this study were located in the sulfate transporter and anti-sigma factor antagonist domain, the core region for membrane targeting of SulP/SLC26 anion transporters, which strongly suggests that failure in membrane trafficking by SLC26A4 is a direct cause of HL in this family. Our study could therefore provide a foundation for further investigations elucidating the SLC26A4-related mechanisms of HL.
목차
등록된 정보가 없습니다.
참고문헌 (29)
참고문헌 신청
Bizhanova A / 2011 / Analysis of cellular localization and function of carboxy-terminal mutants of pendrin / Cell Physiol Biochem 28(3):423~434
Sharma AK / 2011 / STAS domain structure and function / Cell Physiol Biochem 28(3):407~422
Frischmeyer PA / 1999 / Nonsense-mediated mRNA decay in health and disease / Hum Mol Genet 8(10):1893~1900
King KA / 2010 / SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct / Laryngoscope 120(2):384~389
Ito T / 2011 / SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct / Cell Physiol Biochem 28(3):545~552
Sharma AK / 2011 / STAS domain structure and function / Cell Physiol Biochem 28(3):407~422
Frischmeyer PA / 1999 / Nonsense-mediated mRNA decay in health and disease / Hum Mol Genet 8(10):1893~1900
King KA / 2010 / SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct / Laryngoscope 120(2):384~389
Ito T / 2011 / SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct / Cell Physiol Biochem 28(3):545~552
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