De novo mutations – genetic errors that are present in patients but not in their parents – are more frequent in schizophrenic patients than in normal individuals, according to an international group of scientists led by Dr. Guy A. Rouleau of the University of Montreal and CHU Sainte-Justine Hospital. The discovery, published today inNature Genetics, […]
A clinically extensive and mathematically powerful study of 1000 families with one autistic child and one unaffected sibling has validated a controversial theory of autism’s complex genetic causation. The study for the first time estimates the minimum number of locations in the human genome – 250 to 300 – where gene copy number variation (CNV) […]
Scientists at the University of Washington (UW) Department of Genome Sciences have identified several sporadic or “de novo” genetic mutations in children with autism spectrum disorder. The researchers applied leading edge molecular biology techniques and massively parallel sequencing to simultaneously examine all of the protein coding portions of the genome, collectively called the exome. The […]
Dutch geneticists affiliated with the Radboud University Nijmegen Medical Centre present as a novel research paradigm that spontaneous mutations are an important cause of mental retardation. The majority of mental retardation is caused by spontaneous mutations in paternal sperm or maternal egg cells. With this conclusion, the Dutch geneticists not only resolve an important paradox, […]
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