What gene affects autism?

Inherited mutations in a gene called ACTL6B lead to autism, epilepsy and intellectual disability, according to a new study1. The mutations are recessive, which means that they lead to autism only if a person inherits them in both copies of the gene — one from each parent, who are silent carriers.

What is the most common known genetic cause of autism spectrum?

Mutations in SHANK3 are gaining attention, as they are related to Phelan-McDermid syndrome (PMS) and 22q13 deletion syndrome, and are one of the known genetic causes of ASD.

Which parent is responsible for autism?

Researchers have assumed that mothers are more likely to pass on autism-promoting gene variants. That’s because the rate of autism in women is much lower than that in men, and it is thought that women can carry the same genetic risk factors without having any signs of autism.

What are the symptoms of autism spectrum disorder?

Autism spectrum disorder (ASD) refers to a group of complex neurodevelopment disorders characterized by repetitive and characteristic patterns of behavior and difficulties with social communication and interaction. The symptoms are present from early childhood and affect daily functioning.

How are autism symptoms linked to gene mutations?

Autism is notoriously heterogeneous, perhaps involving mutations in any of hundreds of genes. Typically, researchers begin by studying people with similar symptoms and working backward to identify what causes those symptoms.

How is CHD8 related to the autism spectrum?

Thanks for subscribing! Face forward: Individuals with a CHD8 mutation look strikingly similar to each other, with wide-set eyes and broad foreheads. CHD8, a gene that regulates the structure of DNA, is the closest thing so far to an ‘autism gene,’ suggests a study published today in Cell1.

Are there mutations in the SHH gene in humans?

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. Hum Mutat. 2009 Oct;30 (10):E921-35. doi: 10.1002/humu.21090.