Familial Molecular Burden in Autism Spectrum Disorder: A Next-Generation Sequencing Study of Polish Affected Families

This family-based NGS study of 42 Polish families identified rare inherited and de novo genetic variants in autism spectrum disorder, revealing complex inheritance patterns with de novo variants more common in atypical autism and homozygous inheritance in Asperger syndrome. The research detected variants in established ASD risk genes (SHANK3, MYT1L, NIPBL, TSC2) affecting synaptic function and neurogenesis, highlighting the genetic heterogeneity of ASD and suggesting different mechanisms may underlie distinct clinical presentations.