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Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.

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dc.contributor.author김현우-
dc.date.accessioned2017-02-27T07:45:11Z-
dc.date.available2017-02-27T07:45:11Z-
dc.date.issued2016-
dc.identifier.issn1098-3600-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/146981-
dc.description.abstractPURPOSE: The purpose of this study was to evaluate the clinical utility of targeted exome sequencing (TES) as a molecular diagnostic tool for patients with skeletal dysplasia. METHODS: A total of 185 patients either diagnosed with or suspected to have skeletal dysplasia were recruited over a period of 3 years. TES was performed for 255 genes associated with the pathogenesis of skeletal dysplasia, and candidate variants were selected using a bioinformatics analysis. All candidate variants were confirmed by Sanger sequencing, correlation with the phenotype, and a cosegregation study in the family. RESULTS: TES detected "confirmed" or "highly likely" pathogenic sequence variants in 74% (71 of 96) of cases in the assured clinical diagnosis category and 20.3% (13 of 64 cases) of cases in the uncertain clinical diagnosis category. TES successfully detected pathogenic variants in all 25 cases of previously known genotypes. The data also suggested a copy-number variation that led to a molecular diagnosis. CONCLUSION: This study demonstrates the feasibility of TES for the molecular diagnosis of skeletal dysplasia. However, further confirmation is needed for a final molecular diagnosis, including Sanger sequencing of candidate variants with suspected, poorly captured exons.Genet Med 18 6, 563-569.-
dc.description.statementOfResponsibilityrestriction-
dc.format.extent563~569-
dc.languageEnglish-
dc.publisherNature Publishing Group-
dc.relation.isPartOfGENETICS IN MEDICINE-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHDNA Copy Number Variations/genetics-
dc.subject.MESHExons/genetics-
dc.subject.MESHFemale-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMusculoskeletal Abnormalities/diagnosis*-
dc.subject.MESHMusculoskeletal Abnormalities/genetics*-
dc.subject.MESHMusculoskeletal Abnormalities/physiopathology-
dc.subject.MESHMutation-
dc.subject.MESHPathology, Molecular*-
dc.subject.MESHPedigree-
dc.subject.MESHPhenotype-
dc.subject.MESHWhole Exome Sequencing/methods*-
dc.titleComprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.-
dc.typeArticle-
dc.publisher.locationUnited States-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Orthopedic Surgery-
dc.contributor.googleauthorJun-SeokBae-
dc.contributor.googleauthorNayoungK.D.Kim-
dc.contributor.googleauthorChungLee-
dc.contributor.googleauthorSangCheolKim-
dc.contributor.googleauthorHeyRanLee-
dc.contributor.googleauthorHae-RyongSong-
dc.contributor.googleauthorKunBoPark-
dc.contributor.googleauthorHyunWooKim-
dc.contributor.googleauthorSoonHyuckLee-
dc.contributor.googleauthorHaYongKim-
dc.contributor.googleauthorSoonChulLee-
dc.contributor.googleauthorChanghoonJeong-
dc.contributor.googleauthorMoonSeokPark-
dc.contributor.googleauthorWonJoonYoo-
dc.contributor.googleauthorChinYoubChung-
dc.contributor.googleauthorInHoChoi-
dc.contributor.googleauthorOk-HwaKim-
dc.contributor.googleauthorWoong-YangPark-
dc.contributor.googleauthorTae-JoonCho-
dc.identifier.doi10.1038/gim.2015.129-
dc.contributor.localIdA01124-
dc.relation.journalcodeJ00934-
dc.identifier.eissn1530-0366-
dc.identifier.pmid26402641-
dc.identifier.urlhttp://www.nature.com/gim/journal/v18/n6/full/gim2015129a.html-
dc.subject.keywordMendelian-
dc.subject.keywordmolecular genetic test-
dc.subject.keywordmonogenic-
dc.subject.keywordnext generation sequencing-
dc.subject.keywordskeletal dysplasia-
dc.contributor.alternativeNameKim, Hyun Woo-
dc.contributor.affiliatedAuthorKim, Hyun Woo-
dc.citation.volume18-
dc.citation.number6-
dc.citation.startPage563-
dc.citation.endPage569-
dc.identifier.bibliographicCitationGENETICS IN MEDICINE, Vol.18(6) : 563-569, 2016-
dc.date.modified2017-02-24-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Orthopedic Surgery (정형외과학교실) > 1. Journal Papers

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