ABCMdb

PMID: 20683201

Matte U, Mourya R, Miethke A, Liu C, Kauffmann G, Moyer K, Zhang K, Bezerra JA
Analysis of gene mutations in children with cholestasis of undefined etiology.
J Pediatr Gastroenterol Nutr. 2010 Oct;51(4):488-93., [PubMed]

Sentences

No. Mutations Sentence Comment

64 ABCB4 p.Gln945* ABCB4 p.Tyr1171Cys This patient had 1 sequence variant that introduced a premature stop codon (p.Q945X) in ABCB4 and a second missense variant predicted to be damaging to the encoded protein (p.Y1171C; Table 3 and Fig. 2), which together are likely to result in MDR3 deficiency. Login to comment 95 ABCB11 p.Glu297Gly ABCB11 p.Glu297Gly ABCB11 p.Arg1090* ABCB11 p.Glu1223Asp ABCB11 p.Arg948Cys ABCB11 p.Arg832His ABCB11 p.Cys68Tyr ABCB11 p.Ile541Thr ABCB11 p.Ile541Thr ABCB11 p.Arg928* ABCB4 p.Gln945* ABCB4 p.Tyr1171Cys Gene sequence variants likely to cause disease phenotypes in subjects with CUEÃ Subject Age g-GTP Liver biopsy Gene Variant (allele frequency, if new) References CUE-1 1 mo 458 Not done JAG1 p.C251X New CUE-2 3.5 mo 632 Cholestasis, GCT, small bile ducts JAG1 p.V1086E New CUE-3 1.5 y 400 Pseudoacinar transformation, portal inflammation, moderate fibrosis ABCB4 p.Q945X/p.Y1171C (0%) New/new CUE-4 26 y 47 Cytoplasmic and canalicular cholestasis, portal fibrosis ATP8B1 p.N45T/p.I1050K (0%) (20)/new CUE-5 3.5 y 40 Electron microscopy consistent with Byler disease ATP8B1 c.1819þ1g>a/p.R930X Newy /(27) CUE-6 1.5 y 20 Canalicular cholestasis, portal inflammation ATP8B1 g.92918del565/g.92918del565 (13) CUE-7 1 y 44 GCT, portal inflammation, and fibrosis ABCB11 p.R928X/p.R1090X (13,28) CUE-8 2.5 y 62 Canalicular cholestasis, periportal inflammation, portal fibrosis ABCB11 p.I541T/p.I541T (12) CUE-9 5.5 y 54 Cholestasis, GCT, ductopenia, bridging fibrosis ABCB11 p.E297G/E297G (22) CUE-10 11 y 9 Minimal cholestasis; insufficient representation of portal tracts ABCB11 p.R948C/p.E1223D (0%) (12)/new CUE-11 6 mo 64 Cytoplasmic and canalicular cholestasis, GCT, fibrosis ABCB11 p.C68Y (0%)/p.R832H (0%) New, new CUE-12 2 y 42 Not done ABCB11 c.3770delA/c.3770delA Newy /newy CUE-13 19 y 29 Marked cholestasis, portal fibrosis. Login to comment 96 ABCB11 p.Gly556Arg ABCB11 p.Asp1243Gly ABCB11 c.3929delG/c.3929delG Newy /newy CUE-14 3 y 44 Canalicular cholestasis, portal-portal bridging fibrosis ABCB11 p.G556R (0%)/p.D1243G (0%) New, new CUE ¼ cholestasis of undefined etiology; GCT ¼ giant cell transformation; g-GTP ¼ gamma-glutamyl transpeptidase. Login to comment