Deletions in the autism-linked gene AUTS2 trigger a variety of symptoms, including intellectual disability, developmental delay, a small head and unusual facial features, suggests a large study published 7 February in the American Journal of Human 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.
Symptoms associated with a deletion of the 15q13.3 chromosomal region could result from the loss of a single gene, CHRNA7, according to a study published 9 July in Clinical Genetics.
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.
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.
By sequencing the protein-coding region of the genome of a single affected family member, researchers were able to diagnose 20 percent of people in 85 consanguineous families with unknown neurodevelopmental disorders, according to research published 13 June in Science Translational Medicine.
Girls diagnosed with autism have slower brain growth in the first year of their life than typically developing children, whereas boys’ brains grow at the same rate as those of typical children, according to a population-based study in Norway.
By creating genetically engineered fish, two independent groups have identified genes in an autism hotspot on chromosome 16 that influence head size and brain development.
Individuals with autism may belong to one of four groups with discrete sets of symptoms, the most distinct of which includes immune system abnormalities accompanied by sleep problems and sensory sensitivity. The results were published in the April issue of Autism Research.