Genetics: Study finds risk gene for autism in males
Mutations in AFF2, a gene located on the X chromosome, are about five times as common in men with autism as in controls, according to a study published 10 July in Human Molecular Genetics.
Mutations in AFF2, a gene located on the X chromosome, are about five times as common in men with autism as in controls, according to a study published 10 July in Human Molecular Genetics.
Women who have intelligence quotients in the normal range may nevertheless have fragile X syndrome, often described as the most common inherited form of mental retardation, according to a case study published 27 June in Molecular Autism.
About 40 percent of individuals with Cornelia de Lange syndrome, a rare genetic disorder, also have autism, according to a study published in the August issue of the American Journal of Medical Genetics Part A.
Deleting the Rett syndrome gene from mature mouse brains leads to the same neurological and behavioral symptoms as deleting it during a key developmental stage, according to a study published 18 July in the Journal of Neuroscience.
The assumption in some published overviews of autism tends to be that all of the problems relevant to the disorder can be found at synapses, the junctions between neurons. But it’s difficult not to notice the striking number of chromatin-associated genes that have emerged as candidate risk factors over the past few months.
Seven individuals who have the symptoms of Rett syndrome carry a genetic disruption near, or overlapping with, the FOXG1 gene, according to a report published 27 June in the European Journal of Human Genetics.
Nearly all children diagnosed with autism retain their diagnosis when screened again at 8 years of age, according to a population-based study of more than 1,000 children, published in June in the Journal of Developmental Behavioral Pediatrics.
A small clinical trial at the Seaver Autism Center at Mount Sinai aims to test whether an existing drug, the growth factor IGF-1, will help treat some of the core symptoms of autism in children with a specific genetic mutation.
Deletions in the second half of the autism-linked gene neurexin-1 are associated with seizures and large head size, according to a study published 23 May in the European Journal of Human Genetics.
Repetitive behaviors are often motivated by anxiety when children with autism and intellectual disability transition from one task to the next, but they are linked to a desire for attention when the children have free time, according to a study published in May in the Journal of Applied Research in Intellectual Disabilities.