Article
Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses
Author/s | Camacho García, Rafael J.
Hervás, Amaia Toma, Claudio Balmaña, Noemí Cormand, Bru Martinez-Mir, Amalia Gómez Scholl, Francisco Manuel |
Department | Universidad de Sevilla. Departamento de Fisiología Médica y Biofísica |
Publication Date | 2013-08-07 |
Deposit Date | 2024-07-31 |
Published in |
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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. ... 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. |
Funding agencies | Agencia de Gestio d\'Ajuts Universitaris i de Recerca-AGAUR, Generalitat de Catalunya European Union (UE) Fundaciò La Maratò de TV3 Fundación Alicia Koplowitz Instituto de Salud Carlos III Ministerio de Economía y Competitividad (MINECO). España |
Project ID. | 2009SGR00971
PIEF-GA-2009-254930 092010 FI08/00730 PI111058 PIM2010ERN-0070 SAF2012-33484 |
Citation | Camacho García, R.J., Hervás, A., Toma, C., Balmaña, N., Cormand, B., Martinez-Mir, A. y Gómez Scholl, F.M. (2013). Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses. Psychiatric Genetics, 23 (6), 262-266. https://doi.org/10.1097/YPG.0000000000000013. |
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