Open AccessFamilial low phospholipid-associated cholelithiasis resulting from an autosomal dominant ABCB4 mutation
Author(s) -
José Miranda-Bautista,
Julia SuárezGonzález,
Cristina Andrés-Zayas,
Ismael Buño,
Rafael Bañares
Publication year - 2019
Publication title -
revista española de enfermedades digestivas/revista española de enfermedades digestivas
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.331
H-Index - 38
eISSN - 2340-4167
pISSN - 1130-0108
DOI - 10.17235/reed.2019.6334/2019
Subject(s) - medicine , compound heterozygosity , mutation , loss of heterozygosity , phospholipid , loss function , gallstones , gastroenterology , gene , genetics , biology , phenotype , membrane , allele
Low phospholipid-associated cholelithiasis (LPAC) syndrome is characterized by early intrahepatic and symptomatic gallstones leading to cholangitis, acute pancreatitis and biliary colic. It has been associated with loss of function variants in the ABCB4 gene. ABCB4 encodes for a phospholipid translocator at the canalicular membrane of the hepatocyte, which "flops" phosphatidylcholine into bile. The autosomal recessive form is the most common, although autosomal dominant forms have also been described. We report the first family with autosomal dominant LPAC syndrome due to heterozygosity of the loss of function mutation c.2932T>C in ABCB4, identified by targeted next generation sequencing.