TITLE

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

AUTHOR(S)
Saber, Sassan; Vazifehmand, Reza; Bagherizadeh, Iman; Kasiri, Mahbubeh
PUB. DATE
September 2013
SOURCE
Indian Journal of Human Genetics;Jul-Sep2013, Vol. 19 Issue 3, p366
SOURCE TYPE
Academic Journal
DOC. TYPE
Case Study
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).
ACCESSION #
91920298

 

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