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BT+IT+NT융합시대의 리더 : 한국바이오칩학회

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Info. Vol.11 - No.3 (2017.09.20)
Title Prenatally Diagnosed TTN Mutation with Repeated Bilateral Club Foot by Whole Exome Sequencing
Authors So Hyun Shim1, Ji Youn Kim1, Se Ra Sung2, Ji Eun Park2, Yun Jeong Shin2, Sung Han Shim2,3 & Dong Hyun Cha1,2,*
Institutions 1Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul, Republic of Korea
2Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, Seoul, Republic of Korea
3Department of Biomedical Science, College of Life Science, CHA University, Seoul, Republic of Korea
*Correspondence and requests for materials should be addressed to D.H. Cha (chadh001@chamc.co.kr)
Abstract With significant advances in genomic technologies over recent years, Next-generation sequencing (NGS) has become an important tool not only for gene discovery and research but also for clinical genetic diagnosis of rare disorders and single-gene-disorder analysis. Many hundreds of single-gene disorders have been described that can manifest prenatally and will comprise a large portion of undiagnosed, chromosomally normal cases but underlying cause of the abnormality still remains unknown for the large majority of cases with an abnormal ultrasound. However, there has been little experience and study in using trio whole exome sequencing (WES) for prenatal diagnosis. In this report the NGS method was applied for the prenatal genetic diagnosis of unidentified life-threatening phenotype in one family and confirmed the pattern of inheritance of titinopathy as well as two novel TTNgene variations. The report presented in these pages offers a unique and valuable perspective on relevance and feasibility of NGS in prenatal diagnosis field.
Keyword Titinopathy, TTN, Whole exome sequencing (WES), Next-generation sequencing (NGS), Trio analysis
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