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Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders.

Francesco Calì1,2, Simone Treccarichi1, Mirella Vinci1

  • 1Oasi Research Institute-IRCCS, 94018 Troina, Italy.

International Journal of Molecular Sciences
|February 13, 2026
PubMed
Summary
This summary is machine-generated.

A novel X-linked variant in the calpain-6 (CAPN6) gene was identified in a family with neurodevelopmental disorders. This CAPN6 variant disrupts placental function, potentially impacting fetal brain development and leading to various neurological conditions.

Keywords:
calpain 6next generation sequencingplacental developmental disordersvascular endothelial growth factor

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Area of Science:

  • Genetics and Molecular Biology
  • Neurodevelopmental Disorders
  • Placental Biology

Background:

  • The placenta plays a critical role in fetal neurological development, acting as a "window to the brain."
  • Neurodevelopmental and motor coordination disorders were observed in a family across multiple generations.
  • Previous research suggests calpain-6 (CAPN6) influences vascular endothelial growth factor (VEGF) activity, impacting fetal development.

Purpose of the Study:

  • To investigate the genetic cause of neurodevelopmental disorders in a family with affected offspring.
  • To identify the specific gene and variant responsible for the observed phenotypes.
  • To explore the potential role of the identified gene in placental function and neurodevelopment.

Main Methods:

  • Whole exome sequencing (WES) was performed to identify genetic variants.
  • Segregation analysis was conducted to determine the inheritance pattern of the variant.
  • Nonsense-mediated mRNA decay (NMD) was assessed to understand the variant's functional impact.

Main Results:

  • A disruptive X-linked pathogenic variant (c.1088_1089del p.Asp363GlyfsTer2) in the calpain-6 (CAPN6) gene was identified.
  • The variant was found in hemizygous males and heterozygous females within the family, correlating with affected individuals.
  • The variant leads to nonsense-mediated mRNA decay (NMD), preventing functional CAPN6 protein production.

Conclusions:

  • The identified CAPN6 variant is a potential novel candidate gene for neurodevelopmental disorders.
  • CAPN6's role in placental and trophoblast tissues is crucial for fetal development.
  • Further functional studies are needed to fully elucidate CAPN6's impact on placental function and neurodevelopment.