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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
- 발행연도
- 2015.1
- 수록면
- 362 - 365 (4page)
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초록· 키워드
오류제보하기
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration. Many genes have been linked to WS, including PAX3, MITF, SNAI2, EDNRB, EDN3, and SOX10, and many additional genes have been associated with disorders with phenotypic overlap with WS. To screen all possible genes associated with WS and congenital deafness simultaneously, we performed diagnostic exome sequencing (DES) in a male patient with clinical features consistent with WS. Using DES, we identified a novel missense variant (c.220C>G; p.Arg74Gly) in exon 2 of the PAX3 gene in the patient. Further analysis by Sanger sequencing of the patient and his parents revealed a de novo occurrence of the variant. Our findings show that DES can be a useful tool for the identification of pathogenic gene variants in WS patients and for differentiation between WS and similar disorders. To the best of our knowledge, this is the first report of genetically confirmed WS in Korea.
목차
등록된 정보가 없습니다.
참고문헌 (14)
참고문헌 신청
Choi JH / 2004 / Three Cases of Waardenburg syndrome type 2 in a Korean family. / Korean J Ophthalmol 18 : 185 ~ 189
Farrer LA / 1992 / Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium / Am J
Gomez CM / 2014 / Clinical exome sequencing: the new standard in genetic diagnosis / JAMA Neurol 71 : 1215 ~ 1216
Lohmann K / 2014 / Next generation sequencing and the future of genetic diagnosis / Neurotherapeutics 11 : 699 ~ 707
Matsunaga T / 2013 / Genetic analysis of PAX3 for diagnosis of Waardenburg syndrome type I / Acta Otolaryngol 133 : 345 ~ 351
Farrer LA / 1992 / Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium / Am J
Gomez CM / 2014 / Clinical exome sequencing: the new standard in genetic diagnosis / JAMA Neurol 71 : 1215 ~ 1216
Lohmann K / 2014 / Next generation sequencing and the future of genetic diagnosis / Neurotherapeutics 11 : 699 ~ 707
Matsunaga T / 2013 / Genetic analysis of PAX3 for diagnosis of Waardenburg syndrome type I / Acta Otolaryngol 133 : 345 ~ 351
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