Document Type

Article

Publication Title

Frontiers in Genetics

Abstract

Autism spectrum disorders (ASD) are defined as a group of neurodevelopmental disorders that share common core features including restrictive repetitive stereotypic behavioral patterns and interests affecting social communication. Over 1,200 genes have been associated with ASD and impacted by copy number variants, chromosomal, and/or single gene defects or epigenetics. Genetic factors contribute to most cases of autism. At least twelve classic genetic disorders with autism as a common feature were selected involving 31 causative or implicated genes with 30 recognized as ASD genes. These disorders were selected to represent a range of genetic abnormalities such as chromosomal deletions, duplications, or trisomy, as well as single or multiple defective genes often with inter-relationship to other genes. Collectively, these syndromes present with neurodevelopmental/behavior/psychiatric findings with ASD, ADHD, intellectual disability and/or psychosis as features. This narrative review is novel by synthesizing available evidence on shared genes, molecular pathways, and protein-protein interaction networks across twelve classic syndromic autism spectrum disorders. Drawing on existing literature and curated web-based databases including STRING and BioGRID, nineteen of the 31 causative and/or implicated genes identified across syndromic autism disorders showed overlap across the twelve classic syndromes having different genetic defects and converged on shared molecular functions, pathways and biological processes. These related to chromatin remodeling, RNA regulation of neurodevelopment and function, synaptic signaling, neuronal connectivity, and protein homeostasis. Phelan-McDermid, Fragile X, Rett, Prader-Willi, Angelman, Burnside-Butler, and Cornelia de Lange syndromes exhibited overlapping pathways related to typical features of autism including social behavior, language acquisition, and associated neurodevelopment. Novel observations of shared molecular patterns across classic genetically distinct syndromes with ASD showed disturbances suggestive of unified, pathway-based therapeutics requiring more investigations to inform future treatment strategies.

DOI

10.3389/fgene.2026.1858001

Publication Date

10-29-2026

Keywords

neurodevelopmental/behavioral/psychiatric disorders, overlapping genes, protein-protein interactions and processes, shared genetic mechanisms and protein networks, STRING and BioGRID web-based programs and databases, syndromic autism, therapeutic interventions

ISSN

1664-8021

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