A Further Case Supporting <scp> <i>CCNK</i> </scp> as a Neurodevelopmental Disease Gene
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.
Authors
- Clara Xiol (ORCID: https://orcid.org/0000-0001-7013-554X)
- Loreto Martorell (ORCID: https://orcid.org/0000-0003-0898-7332)
- Jonathan Olival (ORCID: https://orcid.org/0000-0001-8824-2896)
- Juan Darío Ortigoza‐Escobar (ORCID: https://orcid.org/0000-0002-6320-2641)
Institutions
- Hospital Sant Joan de Déu Barcelona (ES)
- Instituto de Salud Carlos III (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Institut de Recerca Sant Joan de Déu
Publication Details
- Journal
- Clinical Genetics
- Published
- 2025-10-16
- DOI
- https://doi.org/10.1111/cge.70093
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00