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Genetic and molecular mechanisms of the FOXP2-CNTNAP2 pathway in Autism spectrum disorders and speech disorders
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DOI：10.1007/s00702-026-03160-w.png)
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Abstract
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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.
Keywords:
ASD
speech disorder
FOXP2
CNTNAP2
pathway
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