Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
Centre National de la Recherche Scientifique · Institut Pasteur · +51 more institutions
Abstract
SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain to be determined. Here, we performed a new screen and a meta-analysis of SHANK copy-number and coding-sequence variants in ASD. Copy-number variants were analyzed in 5,657 patients and 19,163 controls, coding-sequence variants were ascertained in 760 to 2,147 patients and 492 to 1,090 controls (depending on the gene),…
Citation impact
- FWCI
- 32.80
- Percentile
- 100%
- References
- 58
Authors
60- CSClaire S. Leblond
Centre National de la Recherche Scientifique, Institut Pasteur, Délégation Paris 7, Université Paris Cité, Sorbonne Paris Cité, Gènes, synapses et cognition
- CNCaroline Nava
Centre National de la Recherche Scientifique, Inserm, Université Paris Cité, Sorbonne Université, Institut du Cerveau
- APAnne Polge
Centre Hospitalier Universitaire de Nîmes
- JGJulie Gauthier
Centre Hospitalier Universitaire Sainte-Justine
- GHGuillaume Huguet
Centre National de la Recherche Scientifique, Institut Pasteur, Délégation Paris 7, Université Paris Cité, Sorbonne Paris Cité, Gènes, synapses et cognition
Topics & keywords
- Biology
- Autism
- Genetics
- Intellectual disability
- Autism spectrum disorder
- Penetrance
- Gene
- Copy-number variation