A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression.
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
05 Jan 2024
05 Jan 2024
Historique:
received:
25
08
2023
accepted:
21
11
2023
revised:
09
11
2023
medline:
6
1
2024
pubmed:
6
1
2024
entrez:
5
1
2024
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 38182567
doi: 10.1038/s41439-023-00260-x
pii: 10.1038/s41439-023-00260-x
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1Informations de copyright
© 2024. The Author(s).
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