Genetics: Study pinpoints autism gene on chromosome 1
Deletion of CHRM3, a gene on chromosome 1, leads to autism-like behaviors, according to a case study published 16 December in the European Journal of Medical Genetics.
Deletion of CHRM3, a gene on chromosome 1, leads to autism-like behaviors, according to a case study published 16 December in the European Journal of Medical Genetics.
Maternal health seems to have little impact on autism risk, according to a study published 7 January in PLoS One. The more serious risk is for intellectual disability, which can often occur along with autism.
Neurons in mice that model fragile X syndrome show immature, overexcitable firing patterns, particularly during sleep, according to unpublished research presented last week at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California.
Individuals who have childhood-onset schizophrenia carry more DNA deletions and duplications associated with other disorders, such as autism, than their unaffected siblings do. The unpublished research was presented 16 January at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California.
Spontaneous, or de novo, mutations are present in about half of individuals with severe intellectual disability who do not have large genetic disruptions, according to two sequencing studies published in November.
Of the 305 people diagnosed with autism in Utah in the 1980s, 29 have died. This is about ten times higher than the death rate in the general population during the same time period, according to a study published 25 September in the Journal of Autism and Developmental Disorders.
Researchers have identified several harmful autism-linked mutations in a family of proteins that regulate the expression of various genes, they reported 10 October in Autism Research.
Genes involved in neuropsychiatric disorders tend to be required for the formation of primary cilia — small tentacles on the cell surface that sense the external environment — according to a study published 3 October in PLoS One.
Children with the autism-related disorder tuberous sclerosis complex show sluggish brain activity in response to images of faces, according to a study published 8 November in the Journal of Child Neurology.
Mutations in SYNGAP1, which are associated with severe intellectual disability and an increased risk of autism, do damage by speeding up the rate at which neuronal connections mature, according to a mouse study published 9 November in Cell.