Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome

• Published in: Hepatology (Baltimore, Md.) Vol. 70; no. 3; pp. 899 - 910
• Main Authors: Berauer, John‐Paul, Mezina, Anya I., Okou, David T., Sabo, Aniko, Muzny, Donna M., Gibbs, Richard A., Hegde, Madhuri R., Chopra, Pankaj, Cutler, David J., Perlmutter, David H., Bull, Laura N., Thompson, Richard J., Loomes, Kathleen M., Spinner, Nancy B., Rajagopalan, Ramakrishnan, Guthery, Stephen L., Moore, Barry, Yandell, Mark, Harpavat, Sanjiv, Magee, John C., Kamath, Binita M., Molleston, Jean P., Bezerra, Jorge A., Murray, Karen F., Alonso, Estella M., Rosenthal, Philip, Squires, Robert H., Wang, Kasper S., Finegold, Milton J., Russo, Pierre, Sherker, Averell H., Sokol, Ronald J., Karpen, Saul J.
• Format: Journal Article
• Language: English
• Published: United States Wolters Kluwer Health, Inc 01.09.2019
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Bile; Bile ducts; Biliary atresia; Biliary Atresia - genetics; Biliary Atresia - pathology; Calcium signalling; Child; Children; Cholestasis; Databases, Factual; Diabetes mellitus; DNA sequencing; Embryos; Epithelium; Exome Sequencing; Female; Gene Expression Regulation, Developmental; Genetic factors; Genetic Variation; Hepatology; Heredity; Humans; Infant; Infant, Newborn; Infants; Kidney diseases; Liver diseases; Liver transplantation; Male; Membrane Proteins - genetics; Pathogenicity; Polycystic kidney; Polycystic Kidney Diseases - genetics; Polycystic Kidney Diseases - pathology; Retrospective Studies; Spleen; Spleen - abnormalities; Syndrome

Biliary atresia (BA) is the most common cause of end‐stage 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...