ABCMdb

PMID: 18853996

Chen ST, Chen HL, Su YN, Liu YJ, Ni YH, Hsu HY, Chu CS, Wang NY, Chang MH
Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2.
J Gastroenterol Hepatol. 2008 Sep;23(9):1390-3., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCB11 p.Val284Leu ABCB11 p.Met183Val ABCB11 p.Arg303Lys Results: We report on two families of PFIC2 with inherited compound heterozygous mutations of ABCB11 (M183V and R303K in Family 1, V284L and 1145delC in Family 2) from the parents. Login to comment 7 ABCB11 p.Met183Val An infant with heterozygous M183V mutation was later born healthy in Family 1. Login to comment 8 ABCB11 p.Val284Leu A fetus with compound heterozygous missense mutation V284L and 1145delC was terminated in Family 2. Login to comment 66 ABCB11 p.Met183Val ABCB11 p.Arg303Lys In Family 1, compound heterozygous missense mutations M183V and R303K were found in the patient. Login to comment 71 ABCB11 p.Met183Val ABCB11 p.Arg303Lys Genetic analysis from amniotic DNA showed a heterozygous mutation of M183V, but not R303K. Login to comment 73 ABCB11 p.Val284Leu In Family 2, compound heterozygous missense mutation V284L and a 1bp deletion at nucleotide 1145 at coding sequence were found in the first and second child.9 Both parents carried one mutation each (Fig. 2b). Login to comment 76 ABCB11 p.Val284Leu Genetic study of the fetus showed the same compound heterozygous missense mutation V284L and 1145delC mutation. Login to comment 96 ABCB11 p.Met183Val ABCB11 p.Met183Val ABCB11 p.Arg303Lys ABCB11 p.Arg303Lys (a) Case 1, an affected male with compound heterozygous M183V and R303K mutations; cases 2 and 4, an unaffected sibling and mother with a heterozygous M183V mutation; case 3, an unaffected father with a heterozygous R303K mutation. Login to comment 97 ABCB11 p.Val284Leu (b) Cases 5, 6, 7, affected individuals with compound heterozygous V284L mutation and 1145delC. Login to comment 99 ABCB11 p.Val284Leu Case 9, an unaffected mother with the heterozygous V284L mutation. Login to comment 103 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly Some common mutations have been found in European patients, such as E297G and D482G.15 There is no hotspot found in Asian patients reported from Taiwan and Japan.9,16 In this study, the four mutations found in the two families had not been found in European or Japanese patients. Login to comment