Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3

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Abstract

Background: Defects in ABCB4 have been found to cause progressive familial intrahepatic cholestasis type 3. Liver histology is important, but not specific, for diagnosis. Genotyping is conclusive. Aim: To determine the pathogenetic role of two novel ABCB4 mutations in two unrelated children from North Africa and South Asia. Methods: In both children liver histology showed extensive ductular reaction with portal and periportal fibrosis. Immunohistochemical analysis displayed absence of MDR3 protein expression at the canalicular pole. Genotype analysis was performed. Results: Genotyping revealed two novel mutations in ABCB4: the c.1783 C > T (p.R595X) mutation in exon 15 was detected in compound heterozygosity with the c.937_992 in/del in exon 9 in one case, whereas the homozygous p.R595X mutation was recognized in the second child. Conclusions: Two novel loss-of-function mutations have been identified. Progressive familial intrahepatic cholestasis type 3 has a worldwide distribution and genetic analyses are conclusive for correct diagnosis.

Original languageEnglish
Pages (from-to)567-570
Number of pages4
JournalDigestive and Liver Disease
Volume43
Issue number7
DOIs
Publication statusPublished - Jul 2011

Keywords

  • ABCB4 gene mutations

ASJC Scopus subject areas

  • Gastroenterology
  • Hepatology

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