Cerebrovascular diseases in two patients with entire NSD1 deletion
| Autor: | Toshiyuki Itai, Hirotomo Saitsu, Nobutaka Hattori, Taku Hatano, Satoko Miyatake, Naomichi Matsumoto, Yusuke Aoki, Kazuya Itomi, Atsuko Ohno, Harushi Mori |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Movement disorders business.industry Brain Contusion QH426-470 medicine.disease Biochemistry Gait Stroke Physical medicine and rehabilitation Text mining Hematoma Neuroimaging Life QH501-531 Intellectual disability Data Report Genetics Medicine Clinical genetics medicine.symptom business Molecular Biology |
| Zdroj: | Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021) Human Genome Variation |
| Popis: | We describe two patients with NSD1 deletion, who presented with early-onset, or recurrent cerebrovascular diseases (CVDs). A 39-year-old female showed developmental delay and abnormal gait in infancy, and developed slowly-progressive intellectual disability and movement disorders. Brain imaging suggested recurrent parenchymal hemorrhages. A 6-year-old male had tremor as a neonate and brain imaging revealed subdural hematoma and brain contusion. This report suggests possible involvement of CVDs associated with NSD1 deletion. |
| Databáze: | OpenAIRE |
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