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- Title
Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis.
- Authors
Seon Young Kim; Younghak Lee; Yea Eun Kang; Ji Min Kim; Kyong Hye Joung; Ju Hee Lee; Koon Soon Kim; Hyun Jin Kim; Bon Jeong Ku; Minho Shong; Hyon-Seung Yi
- Abstract
Background: Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely related to functional defect of osteoclasts caused by chloride voltage-gated channel 7 (CLCN7) gene mutations. In this study, we aimed to identify the pathogenic mutation 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 performed whole exome sequencing to identify pathogenic mutation of a rare genetic disorder of the skeleton. Moreover, a polymorphism phenotyping program, Polymorphism Phenotyping v2 (PolyPhen-2), was used to assess the effect of the identified mutation on protein function. Results: Whole exome sequencing using peripheral leukocytes revealed a heterozygous c.296A>G missense mutation in the CLCN7 gene. The mutation was also confirmed using Sanger sequencing. The mutation c.296A>G was regarded to have a pathogenic effect 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. Our present findings suggest that symptoms and signs of ADO II patient having a c.296A>G mutation in CLCN7 may appear at a very late age. The present study would also enrich the database of CLCN7 mutations and improve our understanding of ADO II.
- Subjects
OSTEOPETROSIS; OSTEOSCLEROSIS; PHENOTYPES; GENETICS
- Publication
Endocrinology & Metabolism, 2018, Vol 33, Issue 3, p380
- ISSN
2093-596X
- Publication type
Article
- DOI
10.3803/EnM.2018.33.3.380