A novel ABCB11 mutation in an Iranian girl with progressive familial intrahepatic cholestasis.
Indian J Hum Genet
;
2013 July-Sept ;19 (3): 366-368
Article
in English
| IMSEAR
| ID: sea-156596
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).
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Female
/
Humans
/
Child
/
Cholestasis, Intrahepatic
/
ATP-Binding Cassette Transporters
/
Iran
/
Mutation
Type of study:
Prognostic study
Country/Region as subject:
Asia
Language:
English
Journal:
Indian J Hum Genet
Year:
2013
Type:
Article
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