Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients.

ABSTRACT:

Background

SYN1 encodes synapsin I, which is a neuronal phosphoprotein involving in regulating axonogenesis and synaptogenesis. Variants in the gene have been associated with X-linked neurodevelopmental disorders in recent years.

Methods

In the study, we reported two male patients with familial SYN1 variants related neurodevelopmental disorders from Asian population. Previously published cases with significant SYN1 variants from the literature were also included to analyze the phenotype and genotype of the disorder.

Results

Two maternally inherited SYN1 variants, including c.C1076A, p.T359K in proband A and c.C1444T, p. Q482X in proband B (NM_133499) were found, which have never been described in detail. Combining with our research, all reported probands were male in

SUBMITTER: Xiong J 

PROVIDER: S-EPMC8272254 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature