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Endocrinol Metab : Endocrinology and Metabolism


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Seon Young Kim  (Kim SY) 1 Article
Clinical Study
Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
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
Endocrinol Metab. 2018;33(3):380-386.   Published online September 18, 2018
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AbstractAbstract PDFPubReader   ePub   CrossRef-TDMCrossref - TDM

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.


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.


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.


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.


Citations to this article as recorded by  
  • Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report
    Xiu-Li Song, Li-Yuan Peng, Dao-Wen Wang, Hong Wang
    World Journal of Clinical Cases.2022; 10(20): 6936.     CrossRef
  • Magnetic resonance findings in a Cavalier King Charles spaniel with osteopetrosis, Chiari‐like malformation and syringomyelia
    Ricardo Fernandes, C J Jordan, Colin Driver
    Veterinary Record Case Reports.2019;[Epub]     CrossRef

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