Novel findings from family-based exome sequencing for children with biliary atresia

Abstract Biliary atresia (BA) is a progressive inflammation and fibrosis of the biliary tree characterized by the obstruction of bile flow, which results in liver failure, scarring and cirrhosis. This study aimed to explore the elusive aetiology of BA by conducting whole exome sequencing for 41 chil...

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Autores principales:	Kien Trung Tran, Vinh Sy Le, Lan Thi Mai Dao, Huyen Khanh Nguyen, Anh Kieu Mai, Ha Thi Nguyen, Minh Duy Ngo, Quynh Anh Tran, Liem Thanh Nguyen
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/d0600d62a85a424a938255c883bbfd6e
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spelling	oai:doaj.org-article:d0600d62a85a424a938255c883bbfd6e2021-11-14T12:22:30ZNovel findings from family-based exome sequencing for children with biliary atresia10.1038/s41598-021-01148-y2045-2322https://doaj.org/article/d0600d62a85a424a938255c883bbfd6e2021-11-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-01148-yhttps://doaj.org/toc/2045-2322Abstract Biliary atresia (BA) is a progressive inflammation and fibrosis of the biliary tree characterized by the obstruction of bile flow, which results in liver failure, scarring and cirrhosis. This study aimed to explore the elusive aetiology of BA by conducting whole exome sequencing for 41 children with BA and their parents (35 trios, including 1 family with 2 BA-diagnosed children and 5 child-mother cases). We exclusively identified and validated a total of 28 variants (17 X-linked, 6 de novo and 5 homozygous) in 25 candidate genes from our BA cohort. These variants were among the 10% most deleterious and had a low minor allele frequency against the employed databases: Kinh Vietnamese (KHV), GnomAD and 1000 Genome Project. Interestingly, AMER1, INVS and OCRL variants were found in unrelated probands and were first reported in a BA cohort. Liver specimens and blood samples showed identical variants, suggesting that somatic variants were unlikely to occur during morphogenesis. Consistent with earlier attempts, this study implicated genetic heterogeneity and non-Mendelian inheritance of BA.Kien Trung TranVinh Sy LeLan Thi Mai DaoHuyen Khanh NguyenAnh Kieu MaiHa Thi NguyenMinh Duy NgoQuynh Anh TranLiem Thanh NguyenNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Kien Trung Tran Vinh Sy Le Lan Thi Mai Dao Huyen Khanh Nguyen Anh Kieu Mai Ha Thi Nguyen Minh Duy Ngo Quynh Anh Tran Liem Thanh Nguyen Novel findings from family-based exome sequencing for children with biliary atresia
description	Abstract Biliary atresia (BA) is a progressive inflammation and fibrosis of the biliary tree characterized by the obstruction of bile flow, which results in liver failure, scarring and cirrhosis. This study aimed to explore the elusive aetiology of BA by conducting whole exome sequencing for 41 children with BA and their parents (35 trios, including 1 family with 2 BA-diagnosed children and 5 child-mother cases). We exclusively identified and validated a total of 28 variants (17 X-linked, 6 de novo and 5 homozygous) in 25 candidate genes from our BA cohort. These variants were among the 10% most deleterious and had a low minor allele frequency against the employed databases: Kinh Vietnamese (KHV), GnomAD and 1000 Genome Project. Interestingly, AMER1, INVS and OCRL variants were found in unrelated probands and were first reported in a BA cohort. Liver specimens and blood samples showed identical variants, suggesting that somatic variants were unlikely to occur during morphogenesis. Consistent with earlier attempts, this study implicated genetic heterogeneity and non-Mendelian inheritance of BA.
format	article
author	Kien Trung Tran Vinh Sy Le Lan Thi Mai Dao Huyen Khanh Nguyen Anh Kieu Mai Ha Thi Nguyen Minh Duy Ngo Quynh Anh Tran Liem Thanh Nguyen
author_facet	Kien Trung Tran Vinh Sy Le Lan Thi Mai Dao Huyen Khanh Nguyen Anh Kieu Mai Ha Thi Nguyen Minh Duy Ngo Quynh Anh Tran Liem Thanh Nguyen
author_sort	Kien Trung Tran
title	Novel findings from family-based exome sequencing for children with biliary atresia
title_short	Novel findings from family-based exome sequencing for children with biliary atresia
title_full	Novel findings from family-based exome sequencing for children with biliary atresia
title_fullStr	Novel findings from family-based exome sequencing for children with biliary atresia
title_full_unstemmed	Novel findings from family-based exome sequencing for children with biliary atresia
title_sort	novel findings from family-based exome sequencing for children with biliary atresia
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/d0600d62a85a424a938255c883bbfd6e
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Novel findings from family-based exome sequencing for children with biliary atresia

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