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Article

A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility.

Human molecular genetics - 1 Dec 2017

Guarnieri Fabrizia C, Pozzi Davide, Raimondi Andrea, Fesce Riccardo, Valente Maria M, Delvecchio Vincenza S, Van Esch Hilde, Matteoli Michela, Benfenati Fabio, D'Adamo Patrizia, Valtorta Flavia

Abstract excerpt

Intellectual Disability is a common and heterogeneous disorder characterized by limitations in intellectual functioning and adaptive behaviour, whose molecular mechanisms remain largely unknown. Among the numerous genes found to be involved in the pathogenesis of intellectual disability, 10% are located on the X-chromosome. We identified a missense mutation (c.236 C > G; p.S79W) in the SYN1 gene coding for...

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PMID: 28973667
DOI: 10.1093/hmg/ddx352

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SYN1

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