60 New Genes Linked to Autism Uncovered

Spinning DNA Blue

Autism spectrum disorder is a developmental disability caused by brain differences.

Columbia researchers identify 60 new autism genes.

A recent study conducted by Columbia University researchers has identified 60 genes associated with autism spectrum disorder (ASD), which may provide valuable clues about the causes of autism across the full spectrum of the disorder.

“Overall, the genes we found may represent a different class of genes that are more directly associated with the core symptoms of ASD than previously discovered genes,” says Wendy Chung, MD, Ph.D., the Kennedy Family Professor of Pediatrics and chief of clinical genetics in the Department of Pediatrics at the Columbia University Vagelos College of Physicians and Surgeons.

The findings were recently published in the journal Nature Genetics.

A number of genes have previously been connected to autism, and together, they are responsible for 20% of all cases. Most people with these genes have severe forms of autism as well as other neurological conditions including epilepsy and intellectual disability.

The researchers used data from over 43,000 autistic individuals, including 35,000 participants from the SPARK autism research program of the Simons Foundation, to find hidden autism genes that potentially explain the majority of cases.

Five of the new genes identified had a more moderate impact on autistic symptoms, including cognition, than previously reported genes.

“We need to do more detailed studies including more individuals who carry these genes to understand how each gene contributes to the features of autism, but we think these genes will help us unravel the biological underpinnings that lead to most cases of autism,” Chung says.

The five newly discovered genes also explain why autism often seems to run in families. In contrast to previously known autism genes, which were caused by de novo or new mutations, genetic variants in the five new genes were often inherited from the participant’s parents.

According to Chung, many more moderate-effect genes are still undiscovered, and identifying them would help researchers better understand the biology of the brain and behavior across the full spectrum of autism.

Reference: “Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes” by Xueya Zhou, Pamela Feliciano, Chang Shu, Tianyun Wang, Irina Astrovskaya, Jacob B. Hall, Joseph U. Obiajulu, Jessica R. Wright, Shwetha C. Murali, Simon Xuming Xu, Leo Brueggeman, Taylor R. Thomas, Olena Marchenko, Christopher Fleisch, Sarah D. Barns, LeeAnne Green Snyder, Bing Han, Timothy S. Chang, Tychele N. Turner, William T. Harvey, Andrew Nishida, Brian J. O’Roak, Daniel H. Geschwind, The SPARK Consortium, Jacob J. Michaelson, Natalia Volfovsky, Evan E. Eichler, Yufeng Shen, and Wendy K. Chung, 18 August 2022, Nature Genetics.
DOI: 10.1038/s41588-022-01148-2

The study was funded by the National Institutes of Health and the Simons Foundation.

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