Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review.

ABSTRACT:

Introduction

Synaptotagmin 1 (SYT1), the predominant SYT isoform in the central nervous system, likely acts by promoting vesicle docking, deforming the plasma membrane via Ca²⁺-dependent membrane penetration.

Case presentation

Here, we describe a 21-year-old woman harboring a novel variant in the SYT1 gene, who presents with a complex phenotype, featuring severe intellectual disability, absent speech, behavioral abnormalities, motor stereotypies, dystonic posturing of her hands, a hyperkinetic movement disorder in her childhood, infantile hypotonia, sialorrhea, mild dysmorphic features, epilepsy, peculiar EEG findings, and severe scoliosis.

Discussion

Based on our case and literature review on the 22 previously described patients, we can confirm a co

SUBMITTER: Cesaroni CA 

PROVIDER: S-EPMC10697692 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature