{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T09:27:33Z","timestamp":1791624453386,"version":"4.3.4"},"reference-count":50,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","license":[{"start":{"date-parts":[[2019,3,21]],"date-time":"2019-03-21T00:00:00Z","timestamp":1553126400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2019,3,21]],"date-time":"2019-03-21T00:00:00Z","timestamp":1553126400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["Hepatology"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:p>\n                    Biliary atresia (BA) is the most common cause of end\u2010stage liver disease in children and the primary indication for pediatric liver transplantation, yet underlying etiologies remain unknown. Approximately 10% of infants affected by BA exhibit various laterality defects (heterotaxy) including splenic abnormalities and complex cardiac malformations\u2014a distinctive subgroup commonly referred to as the biliary atresia splenic malformation (BASM) syndrome. We hypothesized that genetic factors linking laterality features with the etiopathogenesis of BA in BASM patients could be identified through whole\u2010exome sequencing (WES) of an affected cohort. DNA specimens from 67 BASM subjects, including 58 patient\u2013parent trios, from the National Institute of Diabetes and Digestive and Kidney Diseases\u2013supported Childhood Liver Disease Research Network (ChiLDReN) underwent WES. Candidate gene variants derived from a prespecified set of 2,016 genes associated with ciliary dysgenesis and\/or dysfunction or cholestasis were prioritized according to pathogenicity, population frequency, and mode of inheritance. Five BASM subjects harbored rare and potentially deleterious biallelic variants in polycystic kidney disease 1 like 1 (\n                    <jats:italic toggle=\"yes\">PKD1L1<\/jats:italic>\n                    ), a gene associated with ciliary calcium signaling and embryonic laterality determination in fish, mice, and humans. Heterozygous\n                    <jats:italic toggle=\"yes\">PKD1L1<\/jats:italic>\n                    variants were found in 3 additional subjects. Immunohistochemical analysis of liver from the one BASM subject available revealed decreased PKD1L1 expression in bile duct epithelium when compared to normal livers and livers affected by other noncholestatic diseases.\n                    <jats:italic toggle=\"yes\">Conclusion:<\/jats:italic>\n                    WES identified biallelic and heterozygous\n                    <jats:italic toggle=\"yes\">PKD1L1<\/jats:italic>\n                    variants of interest in 8 BASM subjects from the ChiLDReN data set; the dual roles for PKD1L1 in laterality determination and ciliary function suggest that\n                    <jats:italic toggle=\"yes\">PKD1L1<\/jats:italic>\n                    is a biologically plausible, cholangiocyte\u2010expressed candidate gene for the BASM syndrome.\n                  <\/jats:p>","DOI":"10.1002\/hep.30515","type":"journal-article","created":{"date-parts":[[2019,1,21]],"date-time":"2019-01-21T11:30:06Z","timestamp":1548070206000},"page":"899-910","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":88,"title":["Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome"],"prefix":"10.1097","volume":"70","author":[{"given":"John\u2010Paul","family":"Berauer","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition,Emory University School of Medicine and Children\u2019s Healthcare of Atlanta,Atlanta,GA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anya I.","family":"Mezina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition,Emory University School of Medicine and Children\u2019s Healthcare of Atlanta,Atlanta,GA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David T.","family":"Okou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition,Emory University School of Medicine and Children\u2019s Healthcare of Atlanta,Atlanta,GA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aniko","family":"Sabo","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center,Baylor College of Medicine,Houston,TX"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"Muzny","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center,Baylor College of Medicine,Houston,TX"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Gibbs","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center,Baylor College of 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