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Benign Recurrent Intrahepatic Cholestasis with a Single Heterozygote Mutation in the ATP8B1 Gene

  • Lee, Yun Seok (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Mi Jin (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Ki, Chang Seok (Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Lee, Yoo Min (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Lee, Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Choe, Yon Ho (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • Received : 2012.05.09
  • Accepted : 2012.06.18
  • Published : 2012.06.30

Abstract

Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by multiple recurrent episodes of severe cholestatic jaundice without obstruction of extrahepatic bile duct. We present the case of a 7-year-old boy with BRIC confirmed by mutation analysis in the ATP8B1 gene and typical clinical manifestation. Despite inheritance of BRIC, we detected a mutation on only one allele. To our knowledge, this is the first report of BRIC with a confirmed single heterozygote novel mutation in the ATP8B1 gene in Korea.

Keywords

References

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  1. Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature vol.12, pp.2, 2020, https://doi.org/10.4254/wjh.v12.i2.64