title: A novel ABCB11 mutation in an Iranian girl with progressive familial intrahepatic cholestasis.
abstract: Progressive 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).
authors: Genetics Center, Shariati Hospital, Tehran Medical University, Tehran, Iran.
authors: Sassan
authors: S
authors: Saber
authors: Reza
authors: R
authors: Vazifehmand
authors: Iman
authors: I
authors: Bagherizadeh
authors: Mahbubeh
authors: M
authors: Kasiri
keywords: ABCB11 gene; novel mutation; progressive familial intrahepatic cholestasis