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De novo protein-coding gene variants in developmental stuttering.

Else Eising1, Ivana Dzinovic2,3, Arianna Vino4

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This study identifies new genes linked to stuttering, revealing a genetic connection between stuttering and other neurodevelopmental disorders. The findings suggest diverse genetic causes for stuttering, impacting speech development.

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Speech Pathology

Background:

  • Developmental stuttering is a common childhood speech disorder with transient or persistent forms.
  • Previous research identified six genes associated with persistent stuttering, suggesting a monogenic basis.
  • The genetic underpinnings of stuttering, especially its heterogeneity, remain incompletely understood.

Purpose of the Study:

  • To identify novel genetic variants associated with stuttering using a de novo variant screening approach.
  • To investigate potential overlaps in brain-related processes among genes implicated in monogenic stuttering.
  • To explore the relationship between stuttering and other neurodevelopmental disorders.

Main Methods:

  • Exome sequencing of 85 parent-child trios with stuttering.
  • Bioinformatic analyses of gene-expression and brain structural connectivity data.
  • Identification and validation of pathogenic and likely pathogenic variants in candidate genes.

Main Results:

  • Identified pathogenic variants in SPTBN1 and likely pathogenic variants in PRPF8, TRIO, ZBTB7A, FLT3, and IREB2.
  • Found a direct genetic link between stuttering and neurodevelopmental disorders like speech delay and aphasia.
  • Demonstrated heterogeneity in biological pathways associated with monogenic stuttering genes, indicating diverse etiological bases.

Conclusions:

  • This study provides the first direct genetic evidence linking stuttering to other neurodevelopmental disorders.
  • The findings highlight the genetic heterogeneity underlying monogenic forms of stuttering.
  • New genes implicated in stuttering offer insights into speech development and related disorders.