What’s known about the genetics of autism supports the ‘snowflake’ hypothesis — that the molecular underpinnings of disease are essentially unique from individual to individual — says human geneticist Brett Abrahams.
Spectrum: Autism Research News
Tag: rare variants
Harmful mutations in a gene that regulates the chemical environment outside of neurons are associated with both autism and epilepsy, according to a study published 31 March in Neurobiology of Disease.
An autism-associated gene variant of glyoxalase 1, or GLO1, leads to the buildup of a compound that is toxic to neurons, according to a study published 12 April in Autism Research.
Two rare, unlikely and inherited mutations in the same gene may together have contributed to a case of autism, according to a study published 23 March in Molecular Psychiatry. The results suggest that the gene, DIAPH3, is a new candidate for autism risk.
Small duplications or deletions of DNA regions — called micro-copy number variations — may not lead directly to disease, but could raise the risk of autism when combined with other mutations, according to a study published in March in the American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.
Rare mutations with strong effects play a key role in autism and schizophrenia, according to a study published in February in PLoS Genetics. The study identifies rare harmful mutations in three candidate genes that are more common in individuals with one of the disorders than in controls.
Genetic syndromes associated with autism are increasingly being diagnosed in utero because of techniques that can identify subtle mutations in the genome. But the technology is ahead of the ethical debate on whether and how to inform parents about mutations with unknown effects.
Mutations in a gene that organizes synapses — the junctions between neurons — may increase the risk of autism, according to a study published in February in Autism Research. The study bolsters evidence linking a pathway involved in cell-to-cell communication to autism.
Matthew State is both a dedicated clinician and a world-class geneticist, but his diplomatic style is a relic of his former adventures in politics.
Duplication or deletion of 16p11.2 — a much-studied chromosomal region with a strong association with autism — is present in 0.76 percent of people with the disorder, according to a meta-analysis published February in Genetics in Medicine.