ABCMdb

PMID: 25847799

Engelmann G, Wenning D, Herebian D, Sander O, Droge C, Kluge S, Kubitz R
Two Case Reports of Successful Treatment of Cholestasis With Steroids in Patients With PFIC-2.
Pediatrics. 2015 May;135(5):e1326-32. doi: 10.1542/peds.2014-2376. Epub 2015 Apr 6., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCB11 p.Arg1235* The young woman was compound heterozygous for p.T919del and p.R1235X. Login to comment 9 ABCB11 p.Arg832Cys The boy was compound heterozygous for the ABCB11 mutations c.150+3A.C and p.R832C and presented with intractable pruritus. Login to comment 34 ABCB11 p.Arg1235* R1235X, resulting in a premature stop-codon at amino acid position 1235 (inherited by the father) (Fig 1). Login to comment 36 ABCB11 p.Arg1235* The anti-BSEP antibody, which was used for immunofluorescence, was directed against the 13 C-terminal amino acids of BSEP.7 BSEP immunoreactivity in the patient`s liver biopsy sample must therefore have been due to expression of the allele carrying the T919del variant, because in the presence of p.R1235X (premature stop codon) the 86 C-terminal amino acids are lacking. Login to comment 45 ABCB11 p.Arg1235* The young woman is compound heterozygous for a triplet deletion in exon 21 c.2756_2758delCCA (p.T919del) and a non-sense mutation c.3703C.T (p.R1235X) in coding exon 26 of ABCB11. Login to comment 61 ABCB11 p.Arg832Cys In the 20th coding exon a heterozygotic missense mutation c.2494C.T (p.R832C, inherited by the mother) was detected together with the heterozygotic splice site mutation c.150+3A.C distally to exon 3 (inherited by the father). Login to comment 82 ABCB11 p.Arg832Cys Patient 2 and his brother (our patient`s younger brother with the same phenotype but much lesser symptoms has not been treated with steroids so far) are compound heterozygous for the splice site mutation c.150+3A.C in intervening sequence 4 (IVS4) and the missense mutation c.2494C.T (p.R832C) in ABCB11 coding exon 20. Login to comment