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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.

Holly Dubbs1, Xilma Ortiz-Gonzalez1,2, Eric D Marsh1,2

  • 1Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

American Journal of Medical Genetics. Part A
|June 7, 2022
PubMed
Summary

Pathogenic variants in the CASK gene cause microcephaly with pontine and cerebellar hypoplasia (MICPCH) and X-linked intellectual disability (XLID). This study expands understanding of CASK gene variants and their associated developmental and neurological phenotypes.

Keywords:
CASKMICPCHcerebellar hypoplasia

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Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • Pathogenic variants in the X-linked CASK gene are linked to microcephaly with pontine and cerebellar hypoplasia (MICPCH) and X-linked intellectual disability (XLID).
  • MICPCH, typically affecting females, results from CASK loss-of-function variants and causes moderate-to-severe intellectual disability, with additional features like epilepsy and hearing loss.
  • XLID phenotypes, often seen in males due to missense CASK variants, can include nystagmus, while carrier females may be unaffected or mildly affected.

Purpose of the Study:

  • To report on 11 additional patients with pathogenic CASK variants.
  • To expand the known spectrum of phenotypes associated with CASK gene mutations.
  • To refine genotype-phenotype correlations for CASK-related disorders.

Main Methods:

  • Clinical evaluation of 11 patients with pathogenic CASK variants.
  • Genetic analysis to identify CASK variants.
  • Phenotypic characterization including developmental assessments and medical history review.

Main Results:

  • Eleven new patients with pathogenic CASK variants were identified, broadening the phenotypic spectrum.
  • The findings expand the understanding of genotype-phenotype correlations for CASK-related neurodevelopmental disorders.
  • Reported phenotypes were consistent with and extended previously described features of MICPCH and XLID.

Conclusions:

  • Pathogenic CASK variants are associated with a range of neurodevelopmental phenotypes.
  • Further characterization of CASK variants is crucial for understanding its role in brain development and synaptic function.
  • This study contributes to a more comprehensive understanding of CASK-related disorders.