Skip Navigation LinksHome > December 2013 - Volume 23 - Issue 6 > Rare variants analysis of neurexin-1β in autism reveals a no...
Psychiatric Genetics:
doi: 10.1097/YPG.0000000000000013
Brief Reports

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

Camacho-Garcia, Rafael J.a; Hervás, Amaiac; Toma, Claudiod,e; Balmaña, Noemíc; Cormand, Brud,e,f; Martinez-Mir, Amaliaa; Scholl, Francisco G.a,b

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Abstract

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 analyzed the NRXN1β gene in a sample of 153 patients with autism. We report the identification of a novel mutation, c.3G>A (p.Met1), affecting the translation initiation site. Expression analysis showed that the c.3G>A mutation switches the translation start site of NRXN1β to an in-frame downstream methionine and decreases synaptic levels of the mutant protein in cultured neurons. These data reinforce a role for synaptic defects of NRXN1β in neurodevelopmental disorders.

© 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

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