ABCMdb

PMID: 18781607

Gotthardt D, Runz H, Keitel V, Fischer C, Flechtenmacher C, Wirtenberger M, Weiss KH, Imparato S, Braun A, Hemminki K, Stremmel W, Ruschendorf F, Stiehl A, Kubitz R, Burwinkel B, Schirmacher P, Knisely AS, Zschocke J, Sauer P
A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.
Hepatology. 2008 Oct;48(4):1157-66., [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCB4 p.Arg788Trp Sequencing of ABCB4 at this locus revealed a novel missense mutation c.2362C>T (p.Arg788Trp) which cosegregated with severity of disease. Login to comment 147 ABCB4 p.Arg788Trp ABCB4 p.Arg788Trp Whereas ABCB1 has not been described as associated with known disease, mutations in ABCB4 can cause PFIC3, characterized by cholestasis in early childhood and cirrhotic liver failure before adulthood, and cholesterol cholelithiasis.22 Moreover, mutations in ABCB4 are associated with ICP.23,24 Direct sequencing of ABCB4 in I.1 revealed homozygosity for a single sequence variant, c.2362CϾT (p.R788W, Arg788Trp) in exon 19. c.2362C is the first base of a triplet encoding the polar amino acid arginine. Login to comment 149 ABCB4 p.Arg788Trp Sequencing of other family members revealed that c.2362CϾT (R788W) precisely cosegregated with CLD. Login to comment 192 ABCB4 p.Arg788Trp Sequencing of ABCB4 revealed the missense mutation c.2362CϾT (p.R788W) for which siblings suffering from progressive liver damage were homozygous and family members showing only ICP or subtle histopathological changes were heterozygous. Login to comment 210 ABCB4 p.Gly535Asp Lucena et al.12 report a woman heterozygous for G535D in ABCB4, who had ICP, cholelithiasis and cholestatic cirrhosis and whose daughter had cholestasis. Login to comment