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Article

Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients.

BMC medical genomics - 9 Jul 2021

Xiong Juan, Duan Haolin, Chen Shimeng, Kessi Miriam, He Fang, Deng Xiaolu, Zhang Ciliu, Yang Li, Peng Jing, Yin Fei

Abstract excerpt

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...

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Identifiers

PMID: 34243774
DOI: 10.1186/s12920-021-01028-4
PMCID: PMC8272254

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