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

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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Bibliographic Details
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
Description
Summary: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).
ISSN:2054-345X

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