ABCB4 p.Arg788Trp
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PMID: 18781607
[PubMed]
Gotthardt D et al: "A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults."
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Sequencing of ABCB4 at this locus revealed a novel missense mutation c.2362C>T (p.Arg788Trp) which cosegregated with severity of disease.
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ABCB4 p.Arg788Trp 18781607:8:82
status: NEW147 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.
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ABCB4 p.Arg788Trp 18781607:147:400
status: NEWX
ABCB4 p.Arg788Trp 18781607:147:407
status: NEW149 Sequencing of other family members revealed that c.2362CϾT (R788W) precisely cosegregated with CLD.
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ABCB4 p.Arg788Trp 18781607:149:66
status: NEW192 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.
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ABCB4 p.Arg788Trp 18781607:192:70
status: NEW