Faculty Information |
|
Article types | Case report |
Language | English |
Refereed paper | Refereed |
Invited paper | Invited |
Title | A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression. |
Journal | Formal name:Human genome variation ISSN code:2054345X |
Domestic / Foregin | Foregin |
Volume, Number, Page | 11(1),pp.1 |
Papers・Author | Tokunaga S, Shimomura H, Taniguchi N, Yanagi K, Kaname T, Okamoto N, Takeshima Y |
Publication date | 2024/01 |
Papers・Description | 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. |