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CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature. | LitMetric

AI Article Synopsis

  • Rare genetic variants in the CDK13 gene cause CDK13-related disorder (CDK13-RD), which includes symptoms like developmental delays, facial abnormalities, and seizures; this paper presents 18 new cases with detailed disease characterization.
  • The study involved clinical data analysis, comparison of DNA methylation between CDK13-RD individuals and controls, and the development of a machine learning model to differentiate CDK13-RD from other disorders.
  • The findings reveal new symptoms associated with CDK13-RD, establish a specific DNA methylation profile as a diagnostic tool, and highlight similarities with another disorder related to the CCNK gene.

Article Abstract

Purpose: Rare genetic variants in CDK13 are responsible for CDK13-related disorder (CDK13-RD), with main clinical features being developmental delay or intellectual disability, facial features, behavioral problems, congenital heart defect, and seizures. In this paper, we report 18 novel individuals with CDK13-RD and provide characterization of genome-wide DNA methylation.

Methods: We obtained clinical phenotype and neuropsychological data for 18 and 10 individuals, respectively, and compared this series with the literature. We also compared peripheral blood DNA methylation profiles in individuals with CDK13-RD, controls, and other neurodevelopmental disorders episignatures. Finally, we developed a support vector machine-based classifier distinguishing CDK13-RD and non-CDK13-RD samples.

Results: We reported health and developmental parameters, clinical data, and neuropsychological profile of individuals with CDK13-RD. Genome-wide differential methylation analysis revealed a global hypomethylated profile in individuals with CDK13-RD in a highly sensitive and specific model that could aid in reclassifying variants of uncertain significance.

Conclusion: We describe the novel features such as anxiety disorder, cryptorchidism, and disrupted sleep in CDK13-RD. We define a CDK13-RD DNA methylation episignature as a diagnostic tool and a defining functional feature of the evolving clinical presentation of this disorder. We also show overlap of the CDK13 DNA methylation profile in an individual with a functionally and clinically related CCNK-related disorder.

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Source
http://dx.doi.org/10.1016/j.gim.2021.12.016DOI Listing

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