Case study identifies a missense variant in CCNK, suggesting its role in neurodevelopmental disease and indicating potential for milder presentations.
De novo CCNK missense variant associated with mild intellectual disability, subtle dysmorphism (hypertelorism, depressed/broad nasal bridge), and ventriculomegaly. This case broadens the clinical spectrum of CCNK-related neurodevelopmental disease and supports cyclin K as a disease gene; imaging and phenotype suggest a milder presentation compared with deletions. The data that support the findings of this study are available from the corresponding authors upon reasonable request.
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Xiol et al. (2025) studied this question.
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