Indian Journal of Human Genetics
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CASE REPORT
Year : 2013  |  Volume : 19  |  Issue : 3  |  Page : 366-368

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


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

Correspondence Address:
Sassan Saber
Genetics Center, Shariati Hospital, Tehran Medical University
Iran
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.120813

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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).


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