Applied Sciences (Aug 2021)

Multiple Genetic Rare Variants in Autism Spectrum Disorders: A Single-Center Targeted NGS Study

  • Chiara Reale,
  • Valeria Tessarollo,
  • Sara Bulgheroni,
  • Silvia Annunziata,
  • Andrea Legati,
  • Daria Riva,
  • Chiara Pantaleoni,
  • Barbara Garavaglia,
  • Stefano D’Arrigo

Journal volume & issue
Vol. 11, no. 8096
p. 8096


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Many studies based on chromosomal microarray and next-generation sequencing (NGS) have identified hundreds of genes associated with autism spectrum disorder (ASD) risk, demonstrating that there are several complex genetic factors that contribute to ASD risk. We performed targeted NGS gene panels for 120 selected genes, in a clinical population of 40 children with well-characterized ASD. The variants identified were annotated and filtered, focusing on rare variants with a minimum allele frequency MET and SLIT3 and the potentially stronger involvement of FAT1 and VPS13B in ASD. Taken together, our findings reinforce the importance of using gene panels to understand the contribution of the different genes already associated with ASD in the pathogenesis of the disease.