Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand

• DOI: 10.1055/s-0038-1632395
• Publication Date: 2018-02-16T23:59:00Z
• Authors: Wison Laochareonsuk; Wanwisa Maneechay; Kanita Kayasut; Piyawan Chiengkri...; Surasak Sangkhathat
• Keywords: Alagille Syndrome; Neonatal cholestasis; JAG1

Biliary atresia (BA) is the most severe form of obstructive cholangiopathy occurring in infants. Definitive diagnosis BA usually relies on operative findings together with supporting pathological patterns found extrahepatic bile duct. In infancy, overlapping clinical cholestasis can be other diseases including biliary hypoplasia and progressive familial intrahepatic cholestasis. addition, has been reported as a phenotype some rare genetic syndromes. Unlike BA, cholangiopathic phenotypes have their own established markers. this study, we used these markers to look for entities cases diagnosed BA. DNA from 20 by histopathology, were subjected study 19 genes associated infantile syndromes, using whole exome sequencing. Variant selection focused those allele frequencies dbSNP150 less than 0.01. All selected variants verified polymerase chain reaction-direct Of studied, 13 detected 9 genes: 4 JAG1 (Alagille syndrome), 2 MYO5B (progressive [PFIC] type 6), one each ABCC2 (Dubin-Johnson ABCB11 (PFIC 2), UG1A1 (Crigler-Najjar MLL2 (Kabuki RFX6 (Mitchell-Riley ERCC4 (Fanconi anemia), KCNH1 (Zimmermann-Laband syndrome). Genetic lesions various cholestatic syndromes raised hypothesis that inflammatory may not distinct disease entity, but shared pathology among several