ABCMdb

PMID: 18482588

Ziol M, Barbu V, Rosmorduc O, Frassati-Biaggi A, Barget N, Hermelin B, Scheffer GL, Bennouna S, Trinchet JC, Beaugrand M, Ganne-Carrie N
ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.
Gastroenterology. 2008 Jul;135(1):131-41. Epub 2008 Mar 26., [PubMed]

Sentences

No. Mutations Sentence Comment

56 ABCB4 p.Arg590Gln ABCB4 p.Arg47* ABCB4 p.Thr175Ala ABCB4 p.Arg545Gly ABCB4 p.Ile738Leu ABCB4 p.Ala934Thr ABCB4 p.Val526Phe As described in Figure 1, 3 (T175A, R590Q, A934T) have been previously described in patients with LPAC or ICP.8,13 Conversely, 5 (R47X, V526F, A539T, R545G, I738L) have not been previously described.20 The frequency of each mutation is indicated in Figure 1. Login to comment 57 ABCB4 p.Arg590Gln ABCB4 p.Arg47* ABCB4 p.Thr175Ala ABCB4 p.Arg545Gly ABCB4 p.Ile738Leu ABCB4 p.Ala934Thr ABCB4 p.Val526Phe As described in Figure 1, 3 (T175A, R590Q, A934T) have been previously described in patients with LPAC or ICP.8,13 Conversely, 5 (R47X, V526F, A539T, R545G, I738L) have not been previously described.20 The frequency of each mutation is indicated in Figure 1. Login to comment 59 ABCB4 p.Arg590Gln The c.1769GϾA (R590Q) mutation in exon 15 Table 2. Login to comment 60 ABCB4 p.Arg590Gln The c.1769Gb0e;A (R590Q) mutation in exon 15 Table 2. Login to comment 91 ABCB4 p.Arg47* ABCB4 p.Arg47* ABCB4 p.Thr175Ala ABCB4 p.Thr175Ala ABCB4 p.Ile738Leu Clinical Characteristics at the Time of Liver Biopsy and ABCB4 Heterozygous Point Mutations Identified in 11 Patients With Unexplained Anicteric Cholestasis Case Sex Age Cholelithiasis symptoms (age at the onset) Recurrence of cholelithiasis after cholecystectomy Intrahepatic hyperechogenic foci, sludge, or microlithiasis ICPa or steroid sexual triggered cholestasisb ABCB heterozygous mutation Exon Location and nucleotide changes Amino acid changes 1 F 23 No __ No Yesa Nonsense 4c c. 139CϾT R47X Missense 6 c. 523AϾG T175A 2 F 16 No - No Yesb Nonsense 4c c. 139CϾT R47X Missense 6 c. 523AϾG T175A 3 F 50 No - No No Missense 18c c. 2212AϾC I738L 4 M 53 Yes (53 y) No Yes - Missense 14c c. Login to comment 92 ABCB4 p.Arg590Gln ABCB4 p.Arg47* ABCB4 p.Arg47* ABCB4 p.Thr175Ala ABCB4 p.Thr175Ala ABCB4 p.Ile738Leu 1615GϾA A539T Missense 15 c. 1769GϾA R590Q 5 F 47 No - No No Missense 23 c. Login to comment 93 ABCB4 p.Arg590Gln ABCB4 p.Arg590Gln ABCB4 p.Arg590Gln ABCB4 p.Arg590Gln ABCB4 p.Ile738Leu ABCB4 p.Ala934Thr 2800GϾT A934T 6 F 18 Yes (18 y) No No Yesb Missense 15 c. 1769GϾA R590Q 7 M 28 No - No - Missense 18c c. 2212AϾC I738L 8 F 52 Yes (51 y) Yes No No Missense 15 c. 1769GϾA R590Q 9 F 57 No - No No Missense 15 c. 1769GϾA R590Q 10 F 48 Yes (32 y) Yes Yes No Missense 14c c. Login to comment 94 ABCB4 p.Arg590Gln ABCB4 p.Arg590Gln ABCB4 p.Arg590Gln ABCB4 p.Arg545Gly ABCB4 p.Ile738Leu ABCB4 p.Ala934Thr 1633AϾG R545G 11 M 29 No - No - Missense 14c c. Login to comment 95 ABCB4 p.Arg545Gly ABCB4 p.Val526Phe 1576GϾT V526F aICP (intrahepatic cholestasis of pregnancy). Login to comment 96 ABCB4 p.Val526Phe 1576Gb0e;T V526F aICP (intrahepatic cholestasis of pregnancy). Login to comment 143 ABCB4 p.Arg590Gln LPAC criteria and of 33 patients with various chronic liver disease.8 Only 1 previously reported mutation (R590Q) observed in 4 patients was also detected in 4 controls, raising the question of its relevance in the pathogenesis of the liver disease. Login to comment 144 ABCB4 p.Arg590Gln ABCB4 p.Arg590Gln The c.1769GϾA (R590Q) mutation in exon 15 has already been described as a genetic variability but predicted to have functional consequences.22 Second, 3 out of the 8 mutations have been previously reported in LPAC or ICP as shown in Figure 1. Login to comment 145 ABCB4 p.Arg590Gln The c.1769Gb0e;A (R590Q) mutation in exon 15 has already been described as a genetic variability but predicted to have functional consequences.22 Second, 3 out of the 8 mutations have been previously reported in LPAC or ICP as shown in Figure 1. Login to comment 164 ABCB4 p.Ile738Leu In addition, 1 patient (case 7) with a new ABCB4 DAMs (I738L), who had 2 consecutive liver biopsies within a 6-year period, had significant progressive portal fibrosis. Login to comment 165 ABCB4 p.Ile738Leu In addition, 1 patient (case 7) with a new ABCB4 DAMs (I738L), who had 2 consecutive liver biopsies within a 6-year period, had significant progressive portal fibrosis. Login to comment