Title |
Rare deleterious mutations of the gene EFR3A in autism spectrum disorders
|
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Published in |
Molecular Autism, April 2014
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DOI | 10.1186/2040-2392-5-31 |
Pubmed ID | |
Authors |
Abha R Gupta, Michelle Pirruccello, Feng Cheng, Hyo Jung Kang, Thomas V Fernandez, Jeremy M Baskin, Murim Choi, Li Liu, Adife Gulhan Ercan-Sencicek, John D Murdoch, Lambertus Klei, Benjamin M Neale, Daniel Franjic, Mark J Daly, Richard P Lifton, Pietro De Camilli, Hongyu Zhao, Nenad Šestan, Matthew W State |
Abstract |
Whole-exome sequencing studies in autism spectrum disorder (ASD) have identified de novo mutations in novel candidate genes, including the synaptic gene Eighty-five Requiring 3A (EFR3A). EFR3A is a critical component of a protein complex required for the synthesis of the phosphoinositide PtdIns4P, which has a variety of functions at the neural synapse. We hypothesized that deleterious mutations in EFR3A would be significantly associated with ASD. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 25% |
Ireland | 1 | 25% |
France | 1 | 25% |
Unknown | 1 | 25% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 4 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Netherlands | 1 | 1% |
Unknown | 71 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 14 | 19% |
Researcher | 14 | 19% |
Student > Bachelor | 7 | 10% |
Student > Master | 6 | 8% |
Student > Doctoral Student | 4 | 6% |
Other | 14 | 19% |
Unknown | 13 | 18% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 17 | 24% |
Biochemistry, Genetics and Molecular Biology | 14 | 19% |
Medicine and Dentistry | 8 | 11% |
Computer Science | 3 | 4% |
Neuroscience | 3 | 4% |
Other | 11 | 15% |
Unknown | 16 | 22% |