A de novo missense variant in the SYT1 gene that was predicted to be damaging was detected in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014). Baker et al., 2018 described 11 individuals with de novo SYT1 missense variants that presented with a neurodevelopmental disorder characterized by infantile hypotonia, congenital ophthalmic abnormalities, childhood-onset hyperkinetic movements disorder, motor stereotypies, and developmental delay; impaired social development was also a common feature, with six of these individuals reportedly showing poor or no eye contact, limited interest in social interactions, and an absence of normal imitative behaviors.
Molecular Function
The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
