A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression
Abstract 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...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-01-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-023-00260-x |
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| _version_ | 1832594910297980928 |
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| author | Sachi Tokunaga Hideki Shimomura Naoko Taniguchi Kumiko Yanagi Tadashi Kaname Nobuhiko Okamoto Yasuhiro Takeshima |
| author_facet | Sachi Tokunaga Hideki Shimomura Naoko Taniguchi Kumiko Yanagi Tadashi Kaname Nobuhiko Okamoto Yasuhiro Takeshima |
| author_sort | Sachi Tokunaga |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-7a1aace2aa544f5c862982906ea4209e |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-7a1aace2aa544f5c862982906ea4209e2025-01-19T12:15:38ZengNature Publishing GroupHuman Genome Variation2054-345X2024-01-011111310.1038/s41439-023-00260-xA novel DLG4 variant causes DLG4-related synaptopathy with intellectual regressionSachi Tokunaga0Hideki Shimomura1Naoko Taniguchi2Kumiko Yanagi3Tadashi Kaname4Nobuhiko Okamoto5Yasuhiro Takeshima6Department of Pediatrics, Hyogo Medical University School of MedicineDepartment of Pediatrics, Hyogo Medical University School of MedicineDepartment of Pediatrics, Hyogo Medical University School of MedicineDepartment of Genome Medicine, National Center for Child Health and DevelopmentDepartment of Genome Medicine, National Center for Child Health and DevelopmentDepartment of Medical Genetics, Osaka Women’s and Children’s HospitalDepartment of Pediatrics, Hyogo Medical University School of MedicineAbstract 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.https://doi.org/10.1038/s41439-023-00260-x |
| spellingShingle | Sachi Tokunaga Hideki Shimomura Naoko Taniguchi Kumiko Yanagi Tadashi Kaname Nobuhiko Okamoto Yasuhiro Takeshima A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression Human Genome Variation |
| title | A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression |
| title_full | A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression |
| title_fullStr | A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression |
| title_full_unstemmed | A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression |
| title_short | A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression |
| title_sort | novel dlg4 variant causes dlg4 related synaptopathy with intellectual regression |
| url | https://doi.org/10.1038/s41439-023-00260-x |
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