"Apparently an intact postsynaptic structure is especially important for the development of cognitive functions, language, and social competence"
- Professor Gudrun Rappold
In Newly Discovered Gene Variants Lead To Autism And Mental Retardation Medical News Today reports on a Study by Researchers working with Professor Gudrun Rappold, Director of the Department of Molecular Human Genetics at Heidelberg University Hospital who purportedly have found genetic mutations in the SHANK2 gene, partially responsible for linking nerve cells, and variants in the number of gene copies that were common to patients with autism and patients with mental retardation. The mutations and variants were not found in control patients in the study.
Professor Rappold stated that "the same mutation can be present in an autistic patient with normal intelligence and in a mentally impaired patient".
The study to which the article refers is Mutations detected in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. S Berkel, CR Marshall, B Weiss, J Howe, R Roeth, U Moog, V Endris, W Roberts, P Szatmari, D Pinto, M Bonin, A Riess, H Engels, R Sprengel, SW Scherer, GA Rappold, Nature Genetics, 2010 in press (tracking number NG-LE27550R1; manuscript ID 589) Doi:10.1038/ng.589
In a Brief Communication
published in the same issue of Nature Genetics the authors state that:
Using microarrays, we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation. DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional variants that were specific to ASD and mental retardation cases, including a de novo nonsense mutation and seven rare inherited changes. Our findings further link common genes between ASD and intellectual disability.