教員業績データベース |
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論文種別 | 症例報告 |
言語種別 | 英語 |
査読の有無 | 査読あり |
招待の有無 | 招待あり |
表題 | A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression. |
掲載誌名 | 正式名:Human genome variation ISSNコード:2054345X |
掲載区分 | 国外 |
巻・号・頁 | 11(1),pp.1 |
著者・共著者 | Tokunaga S, Shimomura H, Taniguchi N, Yanagi K, Kaname T, Okamoto N, Takeshima Y |
発行年月 | 2024/01 |
概要 | DLG4-related synaptopathy is a neurodevelopmental disorder caused by a DLG4 variant. We identified a novel de novo heterozygous frameshift variant, NM_001321075.3(DLG4):c.554_563del, in a Japanese girl. Intellectual regression without motor delay was observed at 2 years of age, and she was diagnosed with autism spectrum disorder and attention-deficit/hyperactivity disorder. Recognizing the possibility of DLG4-related synaptopathy in patients with intellectual regression is important for ensuring an accurate diagnosis. |