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Genetic pathways involved in human speech disorders.

Joery den Hoed¹, Simon E Fisher²

¹Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, The Netherlands; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, The Netherlands.

Current Opinion in Genetics & Development

|July 5, 2020

Summary

This summary is machine-generated.

Rare genetic variants offer insights into speech development and the brain. Studying genes like FOXP2 helps understand neurodevelopmental disorders and shared genetic pathways.

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Area of Science:

Neurogenetics
Developmental Neuroscience
Human Genetics

Background:

Rare genetic variants impacting speech development offer crucial insights into the neurobiology of human communication.
The FOXP2 gene, a transcription factor, serves as a key example, linked to speech apraxia and studied extensively in cellular and animal models.

Purpose of the Study:

To explore how rare genetic variants contribute to speech disorders.
To investigate the neurobiological underpinnings of speech and language development.
To understand the overlap between speech disorders and other neurodevelopmental conditions.

Main Methods:

Utilizing next-generation sequencing and de novo mutation analysis in speech disorder cohorts.
Investigating gene variants in human cell-based systems and animal models.
Analyzing shared genetic risk factors across speech disorders, intellectual disability, and autism.

Main Results:

Discovery of novel etiological variants in additional genes associated with speech disorders.
Evidence of shared genetic risk factors between speech disorders and other neurodevelopmental conditions like intellectual disability and autism.
Identification of potential involvement of co-expressed regulatory genes in early brain development.

Conclusions:

Gene-driven studies reveal overlapping genetic etiologies across different neurodevelopmental diagnoses.
Regulatory genes active during early human brain development are implicated in speech disorders.
Emerging neural models, such as cerebral organoids, show promise for studying these etiological pathways.