コレマツ　セイゴ   KOREMATSU Seigo   是松　聖悟    所属   埼玉医科大学  医学部 総合医療センター　小児科（小児科､総合周産期母子医療センター新生児科、小児救命救急センター）    職種   教授
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読あり
表題	Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion
掲載誌名	正式名：European Journal of Medical Genetics ISSNコード：18780849
出版社	Elsevier Masson SAS
巻・号・頁	61(10),631-633頁
著者・共著者	Kyoko Kiyota,Koh-ichiro Yoshiura,Ryoko Houbara,Hiroaki Miyahara,Seigo Korematsu,Kenji Ihara
発行年月	2018
概要	22q13 deletion syndrome is a genetic disorder caused by the deletion or disruption of the segment of the long arm of chromosome 22. The characteristic clinical features of this syndrome include delayed expressive speech, autistic behavior and hypotonia, and clinically severe complications associated with autoimmunity are rarely reported. We herein report a girl with 22q13 deletion syndrome complicated with multiple inflammatory and autoimmune diseases during early childhood. We performed whole-exome sequencing to identify the genes responsible for her autoimmune diseases and identified the de novo variant p.R512W in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta (PIK3CD) gene. We suspected it to be the disease-causing variant at the conserved residue in PIK(3)C p110δ. Alternatively, haplo-insufficiency of SHANK3 or other genes by 22q13 deletion and the PIK3CD variant might have synergistically contributed to the onset of the distinctive clinical manifestations in this patient.
DOI	10.1016/j.ejmg.2018.04.008
PMID	29673649