Researchers at UT Southwestern Medical Center have identified hundreds of new genetic variants associated with autism spectrum disorder (ASD) in a diverse cohort of 195 families, including 222 people with ASD. The study, published in npj Genomic Medicine, reveals that these unique variants were not previously reported in public databases and were found only in individuals from this specific group.
The team also discovered potentially pathogenic variants in 73 known ASD genes and 120 new candidate genes, which require further investigation to confirm their role in the disease. According to senior author Maria Chahrour, Ph.D., research suggests that up to 1,000 genes may be associated with ASD susceptibility, and this study represents just a small fraction of the disease burden.
To identify these mutations, researchers used whole exome sequencing, a technique for studying rare genetic diseases. The study builds on previous work exploring the genetic basis of ASD in diverse populations, including groundbreaking research on individuals from East African descent.
The inclusion of families from various ancestral backgrounds – African American, Asian, Hispanic, Middle Eastern, Native American, and European – helps identify ancestry-specific effects and improves the interpretation of clinical genetic testing data. The study aims to expand the genetic landscape of ASD across multiple ancestries, particularly those underrepresented in previous research.
Source: https://medicalxpress.com/news/2024-12-genetic-knowledge-autism-underpinnings.html