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A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene

Clara Xiol1, Jonathan Olival2, Loreto Martorell1,3

  • 1Department of Laboratory, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.

Clinical Genetics
|October 16, 2025
PubMed
Summary

A new variant in the CCNK gene is linked to mild intellectual disability and distinct facial features. This finding expands the known effects of CCNK gene mutations on neurodevelopmental disorders.

Keywords:
CCNKgenotype–phenotype variabilityintellectual disabilityventriculomegalywhole‐exome sequencing

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