Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Nonsense Mutations in the ATP8B1 Gene
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 a...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2022-03-01
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| Series: | Case Reports in Gastroenterology |
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| Online Access: | https://www.karger.com/Article/FullText/522145 |
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| author | Ryoichi Miura Tomokazu Kawaoka Michio Imamura Masanari Kosaka Yusuke Johira Yuki Shirane Serami Murakami Shigeki Yano Kei Amioka Kensuke Naruto Yuwa Ando Yumi Kosaka Kenichiro Kodama Shinsuke Uchikawa Hatsue Fujino Atsushi Ono Takashi Nakahara Eisuke Murakami Masami Yamauchi Takao Hinoi Hiroshi Aikata |
| author_facet | Ryoichi Miura Tomokazu Kawaoka Michio Imamura Masanari Kosaka Yusuke Johira Yuki Shirane Serami Murakami Shigeki Yano Kei Amioka Kensuke Naruto Yuwa Ando Yumi Kosaka Kenichiro Kodama Shinsuke Uchikawa Hatsue Fujino Atsushi Ono Takashi Nakahara Eisuke Murakami Masami Yamauchi Takao Hinoi Hiroshi Aikata |
| author_sort | Ryoichi Miura |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-12T07:27:47Z |
| format | Article |
| id | doaj.art-2d5ab90640d147808d787c9523edc8d7 |
| institution | Directory Open Access Journal |
| issn | 1662-0631 |
| language | English |
| last_indexed | 2024-12-12T07:27:47Z |
| publishDate | 2022-03-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Gastroenterology |
| spelling | doaj.art-2d5ab90640d147808d787c9523edc8d72022-12-22T00:33:05ZengKarger PublishersCase Reports in Gastroenterology1662-06312022-03-0116111011510.1159/000522145522145Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Nonsense Mutations in the ATP8B1 GeneRyoichi Miura0Tomokazu Kawaoka1https://orcid.org/0000-0002-1887-1096Michio Imamura2https://orcid.org/0000-0002-0745-991XMasanari Kosaka3Yusuke Johira4Yuki Shirane5Serami Murakami6Shigeki Yano7Kei Amioka8Kensuke Naruto9https://orcid.org/0000-0003-1128-0960Yuwa Ando10Yumi Kosaka11Kenichiro Kodama12Shinsuke Uchikawa13https://orcid.org/0000-0002-1538-4946Hatsue Fujino14Atsushi Ono15https://orcid.org/0000-0002-2482-945XTakashi Nakahara16Eisuke Murakami17Masami Yamauchi18Takao Hinoi19Hiroshi Aikata20https://orcid.org/0000-0002-3409-2156Department of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanDepartment of Clinical and Molecular Genetics, Hiroshima University Hospital, Hiroshima, JapanDepartment of Gastroenterology and Metabolism, Graduate School of Biomedical and Health Science, Hiroshima University Hospital, Hiroshima, JapanBenign 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.https://www.karger.com/Article/FullText/522145atp8b1autosomal recessive liver diseasebenign recurrent intrahepatic cholestasis |
| spellingShingle | Ryoichi Miura Tomokazu Kawaoka Michio Imamura Masanari Kosaka Yusuke Johira Yuki Shirane Serami Murakami Shigeki Yano Kei Amioka Kensuke Naruto Yuwa Ando Yumi Kosaka Kenichiro Kodama Shinsuke Uchikawa Hatsue Fujino Atsushi Ono Takashi Nakahara Eisuke Murakami Masami Yamauchi Takao Hinoi Hiroshi Aikata Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Nonsense Mutations in the ATP8B1 Gene Case Reports in Gastroenterology atp8b1 autosomal recessive liver disease benign recurrent intrahepatic cholestasis |
| title | Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Nonsense Mutations in the ATP8B1 Gene |
| title_full | Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Nonsense Mutations in the ATP8B1 Gene |
| title_fullStr | Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Nonsense Mutations in the ATP8B1 Gene |
| title_full_unstemmed | Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Nonsense Mutations in the ATP8B1 Gene |
| title_short | Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Nonsense Mutations in the ATP8B1 Gene |
| title_sort | benign recurrent intrahepatic cholestasis type 1 with novel nonsense mutations in the atp8b1 gene |
| topic | atp8b1 autosomal recessive liver disease benign recurrent intrahepatic cholestasis |
| url | https://www.karger.com/Article/FullText/522145 |
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