Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing

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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

Issue Date
Lippincott Williams & Wilkins Ltd.
Genetics in Medicine, Vol.18 No.6, pp.563-569
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.
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College of Medicine/School of Medicine (의과대학/대학원)Dept. of Medicine (의학과)Journal Papers (저널논문_의학과)
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