Skip to content
Review Open access

Genetic and molecular mechanisms of the FOXP2-CNTNAP2 pathway in Autism spectrum disorders and speech disorders

Jul 2026 · Journal of neural transmission · Vol 133, pp. 1317 - 1328 · 0 citations · 75 references
Medicine

TL;DR

An in-depth analysis of the genetic and molecular mechanisms of the FOXP2-CNTNAP2 pathway will not only contribute to understanding the pathogenesis of ASD and speech disorders but also offer potential molecular markers for diagnosing related conditions.

Abstract

Autism spectrum disorders (ASD) and speech disorders are neurodevelopmental disorders whose etiology involves intricate genetic and molecular mechanisms. In recent years, the FOXP2-CNTNAP2 pathway has been identified as playing a crucial role in language development and neural function. Aberrant expression or mutation within this pathway is closely associated with the pathogenesis of ASD and speech disorders. Nevertheless, the specific regulatory mechanisms of this pathway and its pathological role in these diseases have not been fully clarified. Therefore, a systematic review of existing research is urgently required to elucidate its molecular underpinnings. An in-depth analysis of the genetic and molecular mechanisms of the FOXP2-CNTNAP2 pathway will not only contribute to understanding the pathogenesis of ASD and speech disorders but also offer potential molecular markers for diagnosing related conditions. Moreover, it provides a theoretical foundation for developing targeted therapeutic strategies. Additionally, this research may offer a novel perspective for studying genetic regulatory networks in neurodevelopment, holding significant scientific value and clinical translation potential.

Read PDF

Similar papers

Review Open access Jul 2026

GENETIC AND MOLECULAR MECHANISMS IN PEDIATRIC NEUROLOGICAL DISORDERS: A SYSTEMATIC REVIEW

The study provides an integrated framework linking genetic variation to molecular dysfunction and clinical outcomes, offering valuable insights for future research and therapeutic development in pediatric neurology.

Varada Vidya Rani, Suryanarayana Reddy Kovvuri, D. Arya · 0 citations
Review Open access Jul 2026

Gene Signalling Pathways, Putative Biomarkers and Hypothetical Modulation in Autism Spectrum Disorders

Integrative pathogenetic mechanisms of ASD are explored, encompassing prenatal viral exposure, alterations in serotonin and oxytocin signaling pathways, regulation of N-methyl-D-aspartate receptors, SHANK proteins, and members of the Solute Carrier protein family.

Anrdrii Kamenshshyk, Igor Belenichev, Anna Prishutova et al. · 0 citations
Open access Jul 2026

Unraveling the impact of trip12 on neurodevelopment: insights from a zebrafish model

This study provides substantial evidence for the vital role of trip12 in the early stages of development, as homozygous individuals exhibited early mortality by Day 23 post-fertilization, while a substantial mortality rate was observed by Day 35 in ‘heterozygous’ mutants.

Maider Roibás-Santos, P. Suarez‐Bregua, J. Rotllant et al. · 0 citations
Open access Jul 2026

Multi-omic data integration improves the resolution of the molecular etiology of autism in a mouse model.

RNA-sequencing, 3-dimensional protein-centric chromatin conformation, and whole genome DNA methylation sequencing approaches are used to investigate hippocampal tissue from an ASD mouse model to determine if multi-omic data integration improves the resolution of key molecular pathways contributing to the complex ASD phenotype.

Carolina D Alberca, Kwangmoon Park, L. Papale et al. · 0 citations