The autism-linked protein MET is expressed at lower levels in the brains of men with autism than in control brains, according to unpublished research presented Thursday at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California. Women with autism do not differ from healthy controls, however.
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.
Parents who have one child with autism would like a genetic test to predict their next child’s risk of the disorder. But it’s not clear how well the tests work.
Of the thousands of DNA variants linked to autism, those that evolved later are the most likely to be harmful, according to a study published 28 November in Nature.
A genetic panel intended to predict the risk of developing autism debuted for clinical use in April, while another is in commercial development and a third was published in Molecular Psychiatry in September. But some experts are concerned, saying the tests are based on preliminary scientific evidence.
Individually, common genetic variants confer little risk for autism. But taken together, they may contribute significantly, predicts a statistical analysis published 15 October in Molecular Autism.
Mutations in the CDKL5 gene lead to developmental delay starting at birth, seizures that begin before 3 months of age, and subtly atypical facial features, according to a study published 8 August in the European Journal of Human Genetics.
A new algorithm increases the accuracy of techniques that detect rare genetic variants among populations, according to a study published 27 July in Bioinformatics.
Common variants in three genes involved in the immune system are more likely to crop up in people with autism than in typical controls, according to a study published 9 June in Molecular Autism.
Identifying genetic variants that affect the expression of other genes can enhance traditional gene association analyses and highlight candidate risk factors for autism, according to a study published 16 May in Molecular Autism.