講演情報
[P20-6]ARID2遺伝子に新規バリアントを認め大泉門閉鎖遅延を呈したコフィン・シリス症候群様の1例
○郷司 彩1, 森野 豊之2, 岡田 朝美1, 森 達夫1, 須賀 健一1, 小谷 裕美子1, 瀬山 理惠3, 内山 由理3,4, 松本 直通3 (1.徳島大学病院 小児科, 2.徳島大学 遺伝情報医学, 3.横浜市立大学大学院 医学研究科 遺伝学, 4.横浜市立大学附属病院 難病ゲノム診断科)
[Background] Coffin-Siris syndrome (CSS) is a heterogeneous congenital anomaly syndrome characterized by intellectual disability, hypertrichosis, coarse facial appearance, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. BRG1/BRM-associated factor (BAF) complex has been associated with autism spectrum disorder and the neurodevelopmental disorders in CSSs. The AT-rich interaction domain 2 (ARID2) protein is a subunit of the BAF complex and is involved in transcriptional activation and repression of target genes. [Case presentation] A 3-year-old boy was born to non-consanguineous parents. He has moderate global developmental delay, and coarse facial features with broad philtrum, external ear malformation, and abnormal oral frenulum morphology. Esotropia, hyperopic astigmatism, nephroptosis, and delayed eruption of primary teeth were observed. He has shown delayed bone age with persistent open anterior fontanelle but does not have hypoplastic fifth fingernails. Whole exome sequencing identified a novel de novo variant [NM_152641.4:c.3060_3061del p.(Pro1022Thrfs*34)] in ARID2. [Discussion] This report identifies a pathogenic variant in the ARID2 gene as a novel and rare cause for a CSS phenotype. Although persistent open anterior fontanelle is rare, other symptoms are commonly seen in CSS.