ABCMdb

PMID: 19840255

Poupon R, Barbu V, Chamouard P, Wendum D, Rosmorduc O, Housset C
Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3.
Liver Int. 2010 Feb;30(2):327-31. Epub 2009 Oct 19., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCB4 p.Ser320Phe ABCB4 p.Ala953Asp One of them (c.959C 4 T; p.Ser320Phe) was previously implicated in LPAC and the second one (c.2858C 4 A; p.Ala953Asp) in PFIC3. Login to comment 8 ABCB11 p.Val444Ala Both patients were also heterozygous for the ABCB11 variant Val444Ala, which predisposes to cholestatic disorders. Login to comment 89 ABCB4 p.Ser320Phe ABCB4 p.Ala953Asp Sequence ABCB4 gene analysis showed the presence of composite heterozygous double alterations affecting exon 9 (c.959C 4 T; p.Ser320Phe) and exon 23 (c.2858C4 A; p.Ala953Asp) in both siblings (Fig. 1, arrows). Login to comment 91 ABCB11 p.Val444Ala Sequence analysis of the ABCB11 gene showed the presence of a heterozygous variation affecting exon 13 (c.1331T 4C; p.Val444Ala). Login to comment 110 ABCB4 p.Ser320Phe One was located in exon 9, and resulted in a substitution of serine for phenylalanine (p.Ser320Phe). Login to comment 111 ABCB4 p.Ala953Asp The other one was located in exon 23, and resulted in a substitution of alanine for aspartic acid (p.Ala953Asp). Login to comment 121 ABCB11 p.Val444Ala In keeping with above mentioned, we performed the sequence analysis of the ABCB11 gene and found that both siblings were heterozygous for the Val444Ala variant. Login to comment 135 ABCB4 p.Ser320Phe ABCB4 p.Ala953Asp (Ala953Asp), previously reported in a homozygous state in PFIC3 (3) and one heterozygous missense mutation (Ser320Phe) previously reported in LPAC (5). Login to comment 136 ABCB4 p.Ser320Phe ABCB4 p.Ala953Asp The Ser320Phe has never been described in PFIC3 (1-3) and the Ala953Asp has never been found in LPAC [(4, 5) and unpublished personal data]. Login to comment 138 ABCB4 p.Gly535Asp In this report, the patient harboured a heterozygous missense alteration (Gly535Asp) and had the features of both 'juvenile cholelithiasis` and cirrhosis. Login to comment