一名患有婴儿期起病的炎症性肠病并伴有严重肛周病变的女孩中发现新型TNFAIP3微缺失。
Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion.
作者信息
Taniguchi Kosuke, Inoue Mikihiro, Arai Katsuhiro, Uchida Keiichi, Migita Osuke, Akemoto Yui, Hirayama Junya, Takeuchi Ichiro, Shimizu Hirotaka, Hata Kenichiro
机构信息
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.
Department of Gastrointestinal and Pediatric Surgery, Mie University Graduate School of Medicine, Tsu, Mie, 514-8507, Japan.
出版信息
Hum Genome Var. 2021 Jan 14;8(1):1. doi: 10.1038/s41439-020-00128-4.
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).
A20单倍体不足（HA20）是一种由功能丧失性TNFAIP3突变引起的疾病，表现出各种自身炎症和/或自身免疫症状。一些HA20病例最初被诊断为极早发型炎症性肠病（VEO-IBD）。我们对一名患有婴儿期发病的IBD和严重肛周病变的日本女孩进行了全外显子组测序（WES），并检测到一个仅包含TNFAIP3的新的新生119 kb微缺失（arr[GRCh37] 6q23.3(138125829_138244816)×1）。
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