A novel ABCB11 mutation in an Iranian girl with progressive familial intrahepatic cholestasis

Sassan Saber, Reza Vazifehmand, Iman Bagherizadeh, Mahbubeh KasiriIndian Journal of Human Genetics 2013 19(3):366-368Progressive familial intrahepatic cholestasis is an autosomal recessive liver disorder caused by (biallelic) mutations in the ATP8B1 of ABCB11 gene. A nine-year-old girl with cholestasis was referred for genetic counseling. She had a family history of cholestasis in two previous expired siblings. Genetic analysis of the ABCB11 gene led to the identification of a novel homozygous mutation in exon 25. The mutation 3593- A > G lead to a missense mutation at the amino acid level (His1198Arg). This mutation caused PFIC2 due to abnormal function in the bile salt export pump protein (BSEP).
Source: Indian Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Source Type: research