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BioMed Central, BMC Medical Genomics, 1(9), 2016

DOI: 10.1186/s12920-016-0236-z

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Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes

Journal article published in 2016 by John K. L. Wong, Desmond Campbell ORCID, Ngoc Diem Ngo, Fanny Yeung, Guo Cheng, Clara S. M. Tang, Patrick H. Y. Chung, Ngoc Son Tran, Man-Ting So, Stacey S. Cherny ORCID, Pak C. Sham, Paul K. Tam, Maria-Mercè Garcia-Barcelo
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Abstract Background Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. CDD affects mainly Asians. To our knowledge, no genetic study has ever been conducted. Methods We aim to identify genetic risk factors by a “trio-based” exome-sequencing approach, whereby 31 CDD probands and their unaffected parents were exome-sequenced. Seven-hundred controls from the local population were used to detect gene-sets significantly enriched with rare variants in CDD patients. Results Twenty-one predicted damaging de novo variants (DNVs; 4 protein truncating and 17 missense) were identified in several evolutionarily constrained genes ( p