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A novel ABCB11 mutation in an Iranian girl with progressive familial intrahepatic cholestasis |
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| Authors: | Sassan Saber Reza Vazifehmand Iman Bagherizadeh Mahbubeh Kasiri |
| Institution: | 1.Genetics Center, Shariati Hospital, Tehran Medical University, Tehran, Iran;2.Young Researchers Department, Islamic Azad University, Rasht, Iran;3.Sarem Cell Research Centre (SCRC) and Department of Medical Genetics, Sarem Hospital, Tehran, Iran;4.Genetics Salamat Center, Shahr-e Kord, Tehran, Iran |
| 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). |
| Keywords: | ABCB11 gene novel mutation progressive familial intrahepatic cholestasis |