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Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.

Authors
 Jun-Seok Bae  ;  Nayoung K.D. Kim  ;  Chung Lee  ;  Sang Cheol Kim  ;  Hey Ran Lee  ;  Hae-Ryong Song  ;  Kun Bo Park  ;  Hyun Woo Kim  ;  Soon Hyuck Lee  ;  Ha Yong Kim  ;  Soon Chul Lee  ;  Changhoon Jeong  ;  Moon Seok Park  ;  Won Joon Yoo  ;  Chin Youb Chung  ;  In Ho Choi  ;  Ok-Hwa Kim  ;  Woong-Yang Park  ;  Tae-Joon Cho 
Citation
 Genetics in Medicine, Vol.18(6) : 563-569, 2016 
Journal Title
 Genetics in Medicine 
ISSN
 1098-3600 
Issue Date
2016
MeSH
DNA Copy Number Variations/genetics ; Exons/genetics ; Female ; Humans ; Male ; Musculoskeletal Abnormalities/diagnosis* ; Musculoskeletal Abnormalities/genetics* ; Musculoskeletal Abnormalities/physiopathology ; Mutation ; Pathology, Molecular* ; Pedigree ; Phenotype ; Whole Exome Sequencing/methods*
Keywords
Mendelian ; molecular genetic test ; monogenic ; next generation sequencing ; skeletal dysplasia
Abstract
PURPOSE: 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.
Full Text
http://www.nature.com/gim/journal/v18/n6/full/gim2015129a.html
DOI
10.1038/gim.2015.129
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Orthopedic Surgery (정형외과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Hyun Woo(김현우) ORCID logo https://orcid.org/0000-0001-8576-1877
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/146981
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