지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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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 제6권 제1호
- 발행연도
- 2013.1
- 수록면
- 41 - 44 (4page)
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초록· 키워드
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Usher syndrome type II (USH2) is the most common form of Usher syndrome, characterized by moderate to severe hearing impairment and progressive visual loss due to retinitis pigmentosa. It has been shown that mutations in the USH2A gene are responsible for USH2. The authors herein describe a 34-year-old Korean woman with the typical clinical manifestation of USH2; she had bilateral hearing disturbance and progressive visual deterioration, without vestibular dysfunction. Molecular genetic study of the USH2A gene revealed a novel frameshift mutation (c.2310delA; Glu771LysfsX17). She was heterozygous for this mutation, and no other mutation was found in USH2A, suggesting the possibility of an intronic or large genomic rearrangement mutation. To the best of our knowledge, this is the first report of a genetically confirmed case of USH2 in Korea. More investigations are needed to delineate genotype-phenotype correlations and ethnicity-specific genetic background of Usher syndrome.
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참고문헌 (11)
참고문헌 신청
Adato A / 2005 / Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells / Hum
Ahmed ZM / 2009 / USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23 / Clin Genet 75 (1) : 86 ~ 91
Baux D / 2007 / Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients / Hum Mutat 28 (8) : 781 ~ 7
Bernal S / 2005 / Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype co
Dreyer B / 2008 / Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II / Hum Mutat 29 (3) : 451 ~
Ahmed ZM / 2009 / USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23 / Clin Genet 75 (1) : 86 ~ 91
Baux D / 2007 / Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients / Hum Mutat 28 (8) : 781 ~ 7
Bernal S / 2005 / Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype co
Dreyer B / 2008 / Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II / Hum Mutat 29 (3) : 451 ~
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