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Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis

Ji Sook Park1, Jae Sung Ko1, Jeong Kee Seo1

  • 1Ji Sook Park, Jae Sung Ko, Jeong Kee Seo, Jin Soo Moon, Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-799, South Korea.

World Journal of Gastroenterology
|May 31, 2016
PubMed

Insights

This study identified novel ABCB11 gene mutations in Korean infants with progressive familial intrahepatic cholestasis type 2 (PFIC2). These transmembrane alterations differ from those found in other ethnic groups, impacting bile salt export pump function.

Area of Science:

  • Genetics
  • Hepatology
  • Pediatrics

Background:

  • Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a severe genetic liver disease.
  • The ATP binding cassette subfamily B member 11 (ABCB11) gene encodes the bile salt export pump (BSEP).
  • Mutations in ABCB11 lead to impaired bile flow and cholestasis.

Purpose of the Study:

  • To investigate the clinical characteristics of Korean patients with PFIC2.
  • To identify mutations in the ABCB11 gene in this population.
  • To compare Korean findings with international data on ABCB11 mutations.

Main Methods:

  • Analysis of 47 infants with neonatal cholestasis.
  • Genetic sequencing of ABCB11 exons and introns in five infants with chronic intrahepatic cholestasis.
  • Clinical data review including liver transplantation outcomes.

Main Results:

  • Three distinct missense mutations in ABCB11 were identified in two patients.
  • Mutations included compound heterozygous 677C>T (S226L)/3007G>A (G1003R) and heterozygous 2296G>A (G766R).
  • These mutations were located within or near the transmembrane domains of the BSEP protein.

Conclusions:

  • The identified ABCB11 mutations in Korean infants represent novel findings.
  • Transmembrane alterations in Korean patients differ from those reported in other ethnicities.
  • These genetic variations contribute to the understanding of PFIC2 pathophysiology globally.
Abstract

Keywords:
ABCB11Bile salt export pumpHepatocellular carcinomaProgressive familial intrahepatic cholestasis

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