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KMID : 1141520180330030380
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Endocrinology and Metabolism
2018 Volume.33 No. 3 p.380 ~ p.386
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Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
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Kim Seon-Young
Lee Young-Hak
Kang Yea-Eun
Kim Ji-Min
Joung Kyong-Hye
Lee Ju-Hee
Kim Koon-Soon
Kim Hyun-Jin
Ku Bon-Jeong
Shong Min-Ho
Yi Hyon-Seung
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Abstract
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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.
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KEYWORD
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Type 2 autosomal dominant osteopetrosis, CLCN7 gene, Osteosclerosis, Whole exome sequencing
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