Skip to content

Largest study of its kind sheds new light on the complex genetics of autism.

Genetic variation accounts for a major proportion of the liability to autism spectrum disorder (ASD).  Now, a study from led by researchers at UCLA shows that in families with multiple children on the autism spectrum, the pattern of genetic factors is different from families with just one affected child.  The team state that their findings provide a better picture of how genetic variation contributes to autism disorders, and could point to a new target for future therapies. The opensource study is published in the American Journal of Human Genetics.
Rare mutations, including copy-number variants (CNVs), contribute significantly to autism spectrum disorder (ASD) risk. Although their importance has been established in families with only one affected child (simplex families), the contribution of both de novo and inherited CNVs to ASD in families with multiple affected individuals (multiplex families) is less well understood.  The current study identifies more than a dozen promising new candidates for genes linked to the risk of autism spectrum disorders, highlighting the complexity of genetic factors in the disorders.

The current study analyzes 1,532 families from the Autism Genetic Resource Exchange (AGRE) to assess the impact of de novo and rare CNVs on ASD risk in multiplex families.  Results show that among children with an autism spectrum disorder who have siblings with autism disorders, inherited copy-number variations had a stronger influence than non-inherited CNVs.  Data findings show that when an affected child has an inherited genetic variation that is known to be an autism spectrum disorder risk factor, it is seldom the case that all his affected siblings have that same variation.

Results show that of the potential new autism spectrum disorder risk genes identified, one of them, NR4A2, is linked to some rare cases of autism disorder with delays in language ability. The lab state that the language connection fits with a their earlier study which found NR4A2 is expressed in the human brain in areas involved in language development.  They go on to add that, to their knowledge, this is the largest study of its kind in families with multiple autism spectrum disorder children.

The team surmise that their findings show families with two or more ASD children and simplex families show distinct patterns of genetic risk; the rate of large, rare de novo CNVs is lower in multiplex families, and there is an increased burden of large, rare inherited CNVs.  For the future, the researchers emphasize that the complex genetic underpinnings of autism spectrum disorder in multiplex families needs to be better characterized with larger studies.

Source: University of California, San Francisco

UCLA-led study sheds new light on the complex genetics of autism - neuroinnovations

Healthinnovations View All

Michelle Petersen is the founder of Healthinnovations, having worked in the health and science industry for over 21 years, which includes tenure within the NHS and Oxford University. Healthinnovations is a publication that has reported on, influenced, and researched current and future innovations in health for the past decade.

Michelle has been picked up as an expert writer for Informa publisher’s Clinical Trials community, as well as being listed as a blog source by the world’s leading medical journals, including the acclaimed Nature-Springer journal series.

Healthinnovations is currently indexed by the trusted Altmetric and PlumX metrics systems, respectively, as a blog source for published research globally. Healthinnovations is also featured in the world-renowned BioPortfolio,, the life science, pharmaceutical and healthcare portal.

Most recently the Texas A&M University covered The Top 10 Healthinnovations series on their site with distinguished Professor Stephen Maren calling the inclusion of himself and his team on the list a reflection of “the hard work and dedication of my students and trainees”.

Michelle Petersen’s copy was used in the highly successful marketing campaign for the mega-hit film ‘Jumanji: The Next Level, starring Jack Black, Karen Gilian, Kevin Hart and Dwayne ‘The Rock’ Johnson. Michelle Petersen’s copywriting was part of the film’s coverage by the Republic TV network. Republic TV is the most-watched English language TV channel in India since its inception in 2017.

An avid campaigner in the fight against child sex abuse and trafficking, Michelle is a passionate humanist striving for a better quality of life for all humans by helping to provide traction for new technologies and techniques within healthcare.

2 thoughts on “Largest study of its kind sheds new light on the complex genetics of autism. Leave a comment

Leave a Reply

Translate »