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

• Published in: Human genome variation Vol. 8; no. 1; p. 1
• Main Authors: Taniguchi, Kosuke, Inoue, Mikihiro, Arai, Katsuhiro, Uchida, Keiichi, Migita, Osuke, Akemoto, Yui, Hirayama, Junya, Takeuchi, Ichiro, Shimizu, Hirotaka, Hata, Kenichiro
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 14.01.2021; Springer Nature B.V; Nature Publishing Group
• Subjects: 631/208/514/2254; 692/699/1503/257/1402; Age; Autoimmune diseases; Biomedical and Life Sciences; Biomedicine; Colon; Data Report; Families & family life; Gene Expression; Gene Function; Gene Therapy; Genomes; Genotype & phenotype; Haploinsufficiency; Human Genetics; Inflammatory bowel disease; Inflammatory bowel diseases; Intestine; Molecular Medicine; Mutation; Ulcers
• ISSN: 2054-345X; 2054-345X
• 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).