CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
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Rouxel Flavien, Relator Raissa, Kerkhof Jennifer, McConkey Haley, Levy Michael, Dias Patricia, Barat-Houari Mouna, Bednarek Nathalie, Boute Odile, Chatron Nicolas, Cherik Florian, Delahaye-Duriez Andrée, Doco-Fenzy Martine, Faivre Laurence, Gauthier Lucas W, Heron Delphine, Hildebrand Michael S, Lesca Gaëtan, Lespinasse James, Mazel Benoit, Menke Leonie A, Morgan Angela T, Pinson Lucile, Quelin Chloe, Rossi Massimiliano, Ruiz-Pallares Nathalie, Tran-Mau-Them Frederic, Van Kessel Imke N, Vincent Marie, Weber Mathys, Willems Marjolaine, Leguyader Gwenael, Sadikovic Bekim, Genevieve David
Аннотация
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.