PMID- 35431768
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220419
IS  - 1662-0631 (Print)
IS  - 1662-0631 (Electronic)
IS  - 1662-0631 (Linking)
VI  - 16
IP  - 1
DP  - 2022 Jan-Apr
TI  - Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Nonsense Mutations in 
      the ATP8B1 Gene.
PG  - 110-115
LID - 10.1159/000522145 [doi]
AB  - Benign recurrent intrahepatic cholestasis (BRIC) is a group of genetically 
      heterogeneous autosomal recessive liver disorders characterized by recurrent 
      episodes of jaundice and pruritus. BRIC is divided into two groups, BRIC type 1 
      (BRIC1) and BRIC type 2 (BRIC2), caused by mutations in the ATP8B1 and ABCB11 
      genes. We show that novel nonsense mutations in ATP8B1 (c.2989G>A, c.1547T>A) are 
      the cause of BRIC1. A 16-year-old girl presented with severe jaundice. Acute and 
      chronic liver diseases with infectious (hepatitis virus), metabolic, and 
      autoimmune etiologies were excluded. Imaging revealed normal intra- and 
      extra-hepatic bile ducts. Liver biopsy revealed severe intrahepatic bile stasis 
      with bile plugs. She had similar symptoms at the age of 0 years. The BRIC 
      criteria were satisfied, and ATP8B1 and ABCB11 gene analyses performed. 
      Surprisingly, novel nonsense variants of the ATP8B1 gene (c.2989G>A and 
      c.1547T>A) in heterozygosis were found, which were identified in each of her 
      parents. Therefore, the compound heterozygote was thought to cause BRIC1 in these 
      patients. Genetic mutations that differ from those already known may help 
      diagnose patients with BRIC.
CI  - Copyright (c) 2022 by S. Karger AG, Basel.
FAU - Miura, Ryoichi
AU  - Miura R
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Kawaoka, Tomokazu
AU  - Kawaoka T
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Imamura, Michio
AU  - Imamura M
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Kosaka, Masanari
AU  - Kosaka M
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Johira, Yusuke
AU  - Johira Y
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Shirane, Yuki
AU  - Shirane Y
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Murakami, Serami
AU  - Murakami S
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Yano, Shigeki
AU  - Yano S
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Amioka, Kei
AU  - Amioka K
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Naruto, Kensuke
AU  - Naruto K
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Ando, Yuwa
AU  - Ando Y
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Kosaka, Yumi
AU  - Kosaka Y
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Kodama, Kenichiro
AU  - Kodama K
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Uchikawa, Shinsuke
AU  - Uchikawa S
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Fujino, Hatsue
AU  - Fujino H
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Ono, Atsushi
AU  - Ono A
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Nakahara, Takashi
AU  - Nakahara T
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Murakami, Eisuke
AU  - Murakami E
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Yamauchi, Masami
AU  - Yamauchi M
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
FAU - Hinoi, Takao
AU  - Hinoi T
AD  - Department of Clinical and Molecular Genetics, Hiroshima University Hospital, 
      Hiroshima, Japan.
FAU - Aikata, Hiroshi
AU  - Aikata H
AD  - Department of Gastroenterology and Metabolism, Graduate School of Biomedical and 
      Health Science, Hiroshima University Hospital, Hiroshima, Japan.
LA  - eng
PT  - Case Reports
DEP - 20220304
PL  - Switzerland
TA  - Case Rep Gastroenterol
JT  - Case reports in gastroenterology
JID - 101474819
PMC - PMC8958625
OTO - NOTNLM
OT  - ATP8B1
OT  - Autosomal recessive liver disease
OT  - Benign recurrent intrahepatic cholestasis
COIS- The authors declare no conflicts of interest or financial support in association 
      with the study.
EDAT- 2022/04/19 06:00
MHDA- 2022/04/19 06:01
PMCR- 2022/03/04
CRDT- 2022/04/18 06:32
PHST- 2021/12/06 00:00 [received]
PHST- 2022/01/07 00:00 [accepted]
PHST- 2022/04/18 06:32 [entrez]
PHST- 2022/04/19 06:00 [pubmed]
PHST- 2022/04/19 06:01 [medline]
PHST- 2022/03/04 00:00 [pmc-release]
AID - crg-0016-0110 [pii]
AID - 10.1159/000522145 [doi]
PST - epublish
SO  - Case Rep Gastroenterol. 2022 Mar 4;16(1):110-115. doi: 10.1159/000522145. 
      eCollection 2022 Jan-Apr.