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
X
ABCB4 p.Arg590Gln 18482588:56:36
status: NEW
view ABCB4 p.Arg590Gln details
ABCB4 p.Arg47*
X
ABCB4 p.Arg47* 18482588:56:130
status: NEW
view ABCB4 p.Arg47* details
ABCB4 p.Thr175Ala
X
ABCB4 p.Thr175Ala 18482588:56:29
status: NEW
view ABCB4 p.Thr175Ala details
ABCB4 p.Arg545Gly
X
ABCB4 p.Arg545Gly 18482588:56:150
status: NEW
view ABCB4 p.Arg545Gly details
ABCB4 p.Ile738Leu
X
ABCB4 p.Ile738Leu 18482588:56:157
status: NEW
view ABCB4 p.Ile738Leu details
ABCB4 p.Ala934Thr
X
ABCB4 p.Ala934Thr 18482588:56:43
status: NEW
view ABCB4 p.Ala934Thr details
ABCB4 p.Val526Phe
X
ABCB4 p.Val526Phe 18482588:56:136
status: NEW
view ABCB4 p.Val526Phe details
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
X
ABCB4 p.Arg590Gln 18482588:57:36
status: NEW
view ABCB4 p.Arg590Gln details
ABCB4 p.Arg47*
X
ABCB4 p.Arg47* 18482588:57:130
status: NEW
view ABCB4 p.Arg47* details
ABCB4 p.Thr175Ala
X
ABCB4 p.Thr175Ala 18482588:57:29
status: NEW
view ABCB4 p.Thr175Ala details
ABCB4 p.Arg545Gly
X
ABCB4 p.Arg545Gly 18482588:57:150
status: NEW
view ABCB4 p.Arg545Gly details
ABCB4 p.Ile738Leu
X
ABCB4 p.Ile738Leu 18482588:57:157
status: NEW
view ABCB4 p.Ile738Leu details
ABCB4 p.Ala934Thr
X
ABCB4 p.Ala934Thr 18482588:57:43
status: NEW
view ABCB4 p.Ala934Thr details
ABCB4 p.Val526Phe
X
ABCB4 p.Val526Phe 18482588:57:136
status: NEW
view ABCB4 p.Val526Phe details
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
X
ABCB4 p.Arg590Gln 18482588:59:21
status: NEW
view ABCB4 p.Arg590Gln details
The c.1769GϾA (R590Q) mutation in exon 15 Table 2. Login to comment
60 ABCB4 p.Arg590Gln
X
ABCB4 p.Arg590Gln 18482588:60:21
status: NEW
view ABCB4 p.Arg590Gln details
The c.1769Gb0e;A (R590Q) mutation in exon 15 Table 2. Login to comment
91 ABCB4 p.Arg47*
X
ABCB4 p.Arg47* 18482588:91:502
status: NEW
view ABCB4 p.Arg47* details
ABCB4 p.Arg47*
X
ABCB4 p.Arg47* 18482588:91:588
status: NEW
view ABCB4 p.Arg47* details
ABCB4 p.Thr175Ala
X
ABCB4 p.Thr175Ala 18482588:91:534
status: NEW
view ABCB4 p.Thr175Ala details
ABCB4 p.Thr175Ala
X
ABCB4 p.Thr175Ala 18482588:91:620
status: NEW
view ABCB4 p.Thr175Ala details
ABCB4 p.Ile738Leu
X
ABCB4 p.Ile738Leu 18482588:91:674
status: NEW
view ABCB4 p.Ile738Leu details
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
X
ABCB4 p.Arg590Gln 18482588:92:49
status: NEW
view ABCB4 p.Arg590Gln details
ABCB4 p.Arg47*
X
ABCB4 p.Arg47* 18482588:92:502
status: NEW
view ABCB4 p.Arg47* details
ABCB4 p.Arg47*
X
ABCB4 p.Arg47* 18482588:92:588
status: NEW
view ABCB4 p.Arg47* details
ABCB4 p.Thr175Ala
X
ABCB4 p.Thr175Ala 18482588:92:534
status: NEW
view ABCB4 p.Thr175Ala details
ABCB4 p.Thr175Ala
X
ABCB4 p.Thr175Ala 18482588:92:620
status: NEW
view ABCB4 p.Thr175Ala details
ABCB4 p.Ile738Leu
X
ABCB4 p.Ile738Leu 18482588:92:674
status: NEW
view ABCB4 p.Ile738Leu details
1615GϾA A539T Missense 15 c. 1769GϾA R590Q 5 F 47 No - No No Missense 23 c. Login to comment
93 ABCB4 p.Arg590Gln
X
ABCB4 p.Arg590Gln 18482588:93:49
status: NEW
view ABCB4 p.Arg590Gln details
ABCB4 p.Arg590Gln
X
ABCB4 p.Arg590Gln 18482588:93:78
status: NEW
view ABCB4 p.Arg590Gln details
ABCB4 p.Arg590Gln
X
ABCB4 p.Arg590Gln 18482588:93:194
status: NEW
view ABCB4 p.Arg590Gln details
ABCB4 p.Arg590Gln
X
ABCB4 p.Arg590Gln 18482588:93:247
status: NEW
view ABCB4 p.Arg590Gln details
ABCB4 p.Ile738Leu
X
ABCB4 p.Ile738Leu 18482588:93:131
status: NEW
view ABCB4 p.Ile738Leu details
ABCB4 p.Ala934Thr
X
ABCB4 p.Ala934Thr 18482588:93:14
status: NEW
view ABCB4 p.Ala934Thr details
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
X
ABCB4 p.Arg590Gln 18482588:94:78
status: NEW
view ABCB4 p.Arg590Gln details
ABCB4 p.Arg590Gln
X
ABCB4 p.Arg590Gln 18482588:94:194
status: NEW
view ABCB4 p.Arg590Gln details
ABCB4 p.Arg590Gln
X
ABCB4 p.Arg590Gln 18482588:94:247
status: NEW
view ABCB4 p.Arg590Gln details
ABCB4 p.Arg545Gly
X
ABCB4 p.Arg545Gly 18482588:94:14
status: NEW
view ABCB4 p.Arg545Gly details
ABCB4 p.Ile738Leu
X
ABCB4 p.Ile738Leu 18482588:94:131
status: NEW
view ABCB4 p.Ile738Leu details
ABCB4 p.Ala934Thr
X
ABCB4 p.Ala934Thr 18482588:94:14
status: NEW
view ABCB4 p.Ala934Thr details
1633AϾG R545G 11 M 29 No - No - Missense 14c c. Login to comment
95 ABCB4 p.Arg545Gly
X
ABCB4 p.Arg545Gly 18482588:95:14
status: NEW
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ABCB4 p.Val526Phe
X
ABCB4 p.Val526Phe 18482588:95:14
status: NEW
view ABCB4 p.Val526Phe details
1576GϾT V526F aICP (intrahepatic cholestasis of pregnancy). Login to comment
96 ABCB4 p.Val526Phe
X
ABCB4 p.Val526Phe 18482588:96:14
status: NEW
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1576Gb0e;T V526F aICP (intrahepatic cholestasis of pregnancy). Login to comment
143 ABCB4 p.Arg590Gln
X
ABCB4 p.Arg590Gln 18482588:143:107
status: NEW
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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
X
ABCB4 p.Arg590Gln 18482588:144:21
status: NEW
view ABCB4 p.Arg590Gln details
ABCB4 p.Arg590Gln
X
ABCB4 p.Arg590Gln 18482588:144:107
status: NEW
view ABCB4 p.Arg590Gln details
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
X
ABCB4 p.Arg590Gln 18482588:145:21
status: NEW
view ABCB4 p.Arg590Gln details
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
X
ABCB4 p.Ile738Leu 18482588:164:55
status: NEW
view ABCB4 p.Ile738Leu details
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
X
ABCB4 p.Ile738Leu 18482588:165:55
status: NEW
view ABCB4 p.Ile738Leu details
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