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Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.

Bae, Jun-Seok; Kim, Nayoung K D; Lee, Chung; Kim, Sang Cheol; Lee, Hey Ran; Song, Hae-Ryong; Park, Kun Bo; Kim, Hyun Woo; Lee, Soon Hyuck; Kim, Ha Yong; Lee, Soon Chul; Jeong, Changhoon; Park, Moon Seok; Yoo, Won Joon; Chung, Chin Youb; Choi, In Ho; Kim, Ok-Hwa; Park, Woong-Yang; Cho, Tae-Joon.
Genet Med; 18(6): 563-9, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26402641


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.


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.


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.


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.
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