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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 380 - 386 (7page)
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초록· 키워드
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Background: Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosisand increased bone mass, predominantly involving spine, pelvis, and skull. It is closely related to functional defect of osteoclastscaused by chloride voltage-gated channel 7 (CLCN7) gene mutations. In this study, we aimed to identify the pathogenicmutation in a Korean patient with ADO II using whole exome sequencing. Methods: We evaluated the clinical, biochemical, and radiographic analysis of a 68-year-old woman with ADO II. We also performedwhole exome sequencing to identify pathogenic mutation of a rare genetic disorder of the skeleton. Moreover, a polymorphismphenotyping program, Polymorphism Phenotyping v2 (PolyPhen-2), was used to assess the effect of the identified mutationon protein function. Results: Whole exome sequencing using peripheral leukocytes revealed a heterozygous c.296A>G missense mutation in theCLCN7 gene. The mutation was also confirmed using Sanger sequencing. The mutation c.296A>G was regarded to have a pathogeniceffect by PolyPhen-2 software. Conclusion: We detect a heterozygous mutation in CLCN7 gene of a patient with ADO II, which is the first report in Korea. Ourpresent findings suggest that symptoms and signs of ADO II patient having a c.296A>G mutation in CLCN7 may appear at a verylate age. The present study would also enrich the database of CLCN7 mutations and improve our understanding of ADO II.
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참고문헌 (19)
참고문헌 신청
Bollerslev J / 2013 / Autosomal dominant osteopetrosis revisited: lessons from recent studies / Eur J Endocrinol 169:R39~R57
Stark Z / 2009 / Osteopetrosis / Orphanet J Rare Dis 4:5
Coudert AE / 2015 / Osteopetrosis and its relevance for the discovery of new functions associated with the skeleton / Int J Endocrinol 2015:372156
Benichou OD / 2000 / Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients / Bone 26:87~93
Del Fattore A / 2006 / Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment / J Med Genet 43:315~325
Stark Z / 2009 / Osteopetrosis / Orphanet J Rare Dis 4:5
Coudert AE / 2015 / Osteopetrosis and its relevance for the discovery of new functions associated with the skeleton / Int J Endocrinol 2015:372156
Benichou OD / 2000 / Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients / Bone 26:87~93
Del Fattore A / 2006 / Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment / J Med Genet 43:315~325
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