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

Kosuke Taniguchi, Mikihiro Inoue, Katsuhiro Arai, Keiichi Uchida, Osuke Migita, Yui Akemoto, Junya Hirayama, Ichiro Takeuchi, Hirotaka Shimizu, Kenichiro Hata

研究成果: Article査読

3 被引用数 (Scopus)

抄録

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).

本文言語English
論文番号1
ジャーナルHuman Genome Variation
8
1
DOI
出版ステータスPublished - 12-2021
外部発表はい

All Science Journal Classification (ASJC) codes

  • 生化学
  • 分子生物学
  • 遺伝学

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