ABCMdb

PMID: 17414143

Jung C, Driancourt C, Baussan C, Zater M, Hadchouel M, Meunier-Rotival M, Guiochon-Mantel A, Jacquemin E
Prenatal molecular diagnosis of inherited cholestatic diseases.
J Pediatr Gastroenterol Nutr. 2007 Apr;44(4):453-8., [PubMed]

Sentences

No. Mutations Sentence Comment

69 ABCB4 p.Arg652Gly Despite this favourable evolution, the entire ABCB4 gene downstream of the deletion was sequenced to exclude the possible presence of another mutationonthe second allele.We identified ahomozygous missense mutation, 1986A>G (R652G), believed to constitute a polymorphism (7). Login to comment 77 ABCB4 p.Arg652Gly ABCB4 p.Arg652Gly Mutational status and results of prenatal molecular diagnosis in PFIC families Disease and family Propositus: phenotype and mutation Foetal genetic status Evolution of pregnancy and after birth PFIC1: family 1 CC, ATP8B1 gene: compound heterozygous IVS9-1G>A, 1336G>A (G446R) Foetus: heterozygous IVS9-1G>A Continued pregnancy: 12 mo of follow-up: healthy, no cholestasis PFIC2: family 2 Unknown CC status, vitamin K deficiency, cerebral haemorrhage, deceased, ABCB11 gene: compound heterozygous IVS24þ5G>A, 3701delC (E1192fs1242X) Foetus: heterozygous 3701delC (E1192fs1242X) Continued pregnancy: 3 mo of follow-up: healthy, no cholestasis PFIC3: family 3 CC, LT, ABCB4 gene: homozygous 1744delT (571fs586X) Foetus 1: heterozygous 1744delT (571fs586X) Continued pregnancy: neonatal cholestasis; favourable evolution under UDCA treatment with normalization of liver tests; UDCA was stopped and clinical status and liver tests were normal at 7 y Complete sequencing of ABCB4 in neonate: homozygous 1986A>G (R652G) Foetus 2: absence of 1744delT (571fs586X) mutation Continued pregnancy: 4 y of follow-up: healthy, no cholestasis Heterozygous 1986A>G (R652G) CC, indicates chronic neonatal cholestasis; LT, liver transplantation; UDCA, ursodeoxycholic acid. Login to comment 109 ABCB4 p.Arg652Gly In addition, the presence of the R652G polymorphism on the foetus`s second allele may have favoured the expression of transient neonatal cholestasis because it has been shown that when this polymorphism is homozygous, it may be associated with a trend towards a low MDR3 protein level in normal human liver (7,8,33). Login to comment