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Ann Clin Transl Neurol. 2016 Apr 19;3(5):392-8. doi: 10.1002/acn3.303. eCollection 2016 May.

α5GABAA receptor deficiency causes autism-like behaviors.

Author information

1
Department of Physiology University of Toronto Toronto Ontario Canada.
2
The Centre for Applied Genomics and Program in Genetics and Genome Biology The Hospital for Sick Children Toronto Ontario Canada.
3
Department of Pharmacology and Toxicology University of Toronto Toronto Ontario Canada.
4
Department of Physiology University of Toronto Toronto Ontario Canada; Department of Pharmacology and Toxicology University of Toronto Toronto Ontario Canada.
5
Department of Pharmacology and Toxicology University of Toronto Toronto Ontario Canada; Campbell Family Mental Health Research Institute of CAMH Toronto Ontario Canada; Department of Psychiatry University of Toronto Toronto Ontario Canada.
6
The Centre for Applied Genomics and Program in Genetics and Genome Biology The Hospital for Sick Children Toronto Ontario Canada; Department of Molecular Genetics and McLaughlin Centre University of Toronto Toronto Ontario Canada.
7
Department of Physiology University of Toronto Toronto Ontario Canada; Department of Anesthesia University of Toronto and Sunnybrook Health Sciences Centre Toronto Ontario Canada.

Abstract

The prevalence of autism spectrum disorders (ASDs), which affect over 1% of the population, has increased twofold in recent years. Reduced expression of GABAA receptors has been observed in postmortem brain tissue and neuroimaging of individuals with ASDs. We found that deletion of the gene for the α5 subunit of the GABAA receptor caused robust autism-like behaviors in mice, including reduced social contacts and vocalizations. Screening of human exome sequencing data from 396 ASD subjects revealed potential missense mutations in GABRA5 and in RDX, the gene for the α5GABAA receptor-anchoring protein radixin, further supporting a α5GABAA receptor deficiency in ASDs.

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