Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion

Abstract A20 haploinsufficiency (HA20), a disease caused by loss-of-function TNFAIP3 mutations, manifests various autoinflammatory and/or autoimmune symptoms. Some cases of HA20 were initially diagnosed as very early onset inflammatory bowel disease (VEO-IBD). We performed whole-exome sequencing (WE...

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Main Authors:	Kosuke Taniguchi, Mikihiro Inoue, Katsuhiro Arai, Keiichi Uchida, Osuke Migita, Yui Akemoto, Junya Hirayama, Ichiro Takeuchi, Hirotaka Shimizu, Kenichiro Hata
Format:	Article
Language:	English
Published:	Nature Publishing Group 2021-01-01
Series:	Human Genome Variation
Online Access:	https://doi.org/10.1038/s41439-020-00128-4

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spelling	doaj-cc11e920333f4d599ea4493ddbe64d3b2021-01-17T12:15:44ZengNature Publishing GroupHuman Genome Variation2054-345X2021-01-01811510.1038/s41439-020-00128-4Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesionKosuke Taniguchi0Mikihiro Inoue1Katsuhiro Arai2Keiichi Uchida3Osuke Migita4Yui Akemoto5Junya Hirayama6Ichiro Takeuchi7Hirotaka Shimizu8Kenichiro Hata9Department of Maternal-Fetal Biology, National Research Institute for Child Health and DevelopmentDepartment of Gastrointestinal and Pediatric Surgery, Mie University Graduate School of MedicineDivision of Gastroenterology, National Center for Child Health and DevelopmentDepartment of Gastrointestinal and Pediatric Surgery, Mie University Graduate School of MedicineDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and DevelopmentDepartment of Anatomic Pathology, Hirosaki University Graduate School of MedicineDepartment of Pediatrics, Mie University Graduate School of MedicineDivision of Gastroenterology, National Center for Child Health and DevelopmentDivision of Gastroenterology, National Center for Child Health and DevelopmentDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and DevelopmentAbstract A20 haploinsufficiency (HA20), a disease caused by loss-of-function TNFAIP3 mutations, manifests various autoinflammatory and/or autoimmune symptoms. Some cases of HA20 were initially diagnosed as very early onset inflammatory bowel disease (VEO-IBD). We performed whole-exome sequencing (WES) for a Japanese girl with infantile-onset IBD and a severe perianal lesion and detected a novel de novo 119 kb microdeletion containing only TNFAIP3 (arr[GRCh37] 6q23.3(138125829_138244816) × 1).https://doi.org/10.1038/s41439-020-00128-4
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Kosuke Taniguchi Mikihiro Inoue Katsuhiro Arai Keiichi Uchida Osuke Migita Yui Akemoto Junya Hirayama Ichiro Takeuchi Hirotaka Shimizu Kenichiro Hata
spellingShingle	Kosuke Taniguchi Mikihiro Inoue Katsuhiro Arai Keiichi Uchida Osuke Migita Yui Akemoto Junya Hirayama Ichiro Takeuchi Hirotaka Shimizu Kenichiro Hata Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion Human Genome Variation
author_facet	Kosuke Taniguchi Mikihiro Inoue Katsuhiro Arai Keiichi Uchida Osuke Migita Yui Akemoto Junya Hirayama Ichiro Takeuchi Hirotaka Shimizu Kenichiro Hata
author_sort	Kosuke Taniguchi
title	Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion
title_short	Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion
title_full	Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion
title_fullStr	Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion
title_full_unstemmed	Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion
title_sort	novel tnfaip3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion
publisher	Nature Publishing Group
series	Human Genome Variation
issn	2054-345X
publishDate	2021-01-01
description	Abstract A20 haploinsufficiency (HA20), a disease caused by loss-of-function TNFAIP3 mutations, manifests various autoinflammatory and/or autoimmune symptoms. Some cases of HA20 were initially diagnosed as very early onset inflammatory bowel disease (VEO-IBD). We performed whole-exome sequencing (WES) for a Japanese girl with infantile-onset IBD and a severe perianal lesion and detected a novel de novo 119 kb microdeletion containing only TNFAIP3 (arr[GRCh37] 6q23.3(138125829_138244816) × 1).
url	https://doi.org/10.1038/s41439-020-00128-4
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Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion

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