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Article

Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses.

Psychiatric genetics - 1 Dec 2013

Camacho-Garcia Rafael J, Hervás Amaia, Toma Claudio, Balmaña Noemí, Cormand Bru, Martinez-Mir Amalia, Scholl Francisco G

Abstract excerpt

Neurexins are synaptic plasma membrane proteins encoded by three genes (NRXN1, -2, -3) with alternative promoters. Mutations in neurexin genes have been identified in different neurodevelopmental disorders, including autism. Recently, two point mutations altering the translation initiation site of NRXN1β (c.-3G>T and c.3G>T) have been described in patients with autism and mental retardation. In this study, we...

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Identifiers

PMID: 24064682
DOI: 10.1097/YPG.0000000000000013

Genes

NRXN1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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