DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kim, Seon Young | ko |
dc.contributor.author | Lee, Younghak | ko |
dc.contributor.author | Kang, Yea Eun | ko |
dc.contributor.author | Kim, Ji Min | ko |
dc.contributor.author | Joung, Kyong Hye | ko |
dc.contributor.author | Lee, Ju Hee | ko |
dc.contributor.author | Kim, Koon Soon | ko |
dc.contributor.author | Kim, Hyun Jin | ko |
dc.contributor.author | Ku, Bon Jeong | ko |
dc.contributor.author | Shong, Minho | ko |
dc.contributor.author | Yi, Hyon-Seung | ko |
dc.date.accessioned | 2023-04-16T02:00:13Z | - |
dc.date.available | 2023-04-16T02:00:13Z | - |
dc.date.created | 2023-04-12 | - |
dc.date.created | 2023-04-12 | - |
dc.date.issued | 2018-09 | - |
dc.identifier.citation | ENDOCRINOLOGY AND METABOLISM, v.33, no.3, pp.380 - 386 | - |
dc.identifier.issn | 2093-596X | - |
dc.identifier.uri | http://hdl.handle.net/10203/306312 | - |
dc.description.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 H. 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 eroich the database of CLCN7 mutations and improve our understanding of ADO II. | - |
dc.language | English | - |
dc.publisher | KOREAN ENDOCRINE SOC | - |
dc.title | Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis | - |
dc.type | Article | - |
dc.identifier.wosid | 000445207800009 | - |
dc.identifier.scopusid | 2-s2.0-85054770311 | - |
dc.type.rims | ART | - |
dc.citation.volume | 33 | - |
dc.citation.issue | 3 | - |
dc.citation.beginningpage | 380 | - |
dc.citation.endingpage | 386 | - |
dc.citation.publicationname | ENDOCRINOLOGY AND METABOLISM | - |
dc.identifier.doi | 10.3803/EnM.2018.33.3.380 | - |
dc.contributor.localauthor | Shong, Minho | - |
dc.contributor.nonIdAuthor | Kim, Seon Young | - |
dc.contributor.nonIdAuthor | Lee, Younghak | - |
dc.contributor.nonIdAuthor | Kang, Yea Eun | - |
dc.contributor.nonIdAuthor | Kim, Ji Min | - |
dc.contributor.nonIdAuthor | Joung, Kyong Hye | - |
dc.contributor.nonIdAuthor | Lee, Ju Hee | - |
dc.contributor.nonIdAuthor | Kim, Koon Soon | - |
dc.contributor.nonIdAuthor | Kim, Hyun Jin | - |
dc.contributor.nonIdAuthor | Ku, Bon Jeong | - |
dc.contributor.nonIdAuthor | Yi, Hyon-Seung | - |
dc.description.isOpenAccess | N | - |
dc.type.journalArticle | Article | - |
dc.subject.keywordAuthor | Type 2 autosomal dominant osteopetrosis | - |
dc.subject.keywordAuthor | CLCN7 gene | - |
dc.subject.keywordAuthor | Osteosclerosis | - |
dc.subject.keywordAuthor | Whole exome sequencing | - |
dc.subject.keywordPlus | ALBERS-SCHONBERG-DISEASE | - |
dc.subject.keywordPlus | MUTATIONS | - |
dc.subject.keywordPlus | LEADS | - |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.