There are 21 human cyclin-dependent kinases which are involved in regulation of the cell cycle, transcription, RNA splicing, apoptosis and neurogenesis. Five of them: CDK4, CDK5, CDK6, CDK10 and CDK13 are associated with human phenotypes. To date, only 62 patients have been presented with mutated CDK13 gene. Those patients had developmental delay, dysmorphic facial features, feeding difficulties, different structural heart and brain defects. 36 of them had missense mutation affecting the protein kinase domain of CDK13. Our patient is the first person reported so far with a frameshift mutation which introduce premature stop codon in the first exon of the CDK13 gene. She has symptoms characteristic for congenital heart defects, facial dysmorphism and intellectual developmental disorder (CHDFIDD).
Malumbres M, Harlow E, Hunt T, et al. Cyclin-dependent kinases: a family portrait. Nat Cell Biol. 2009;11:1275–1276. doi:10.1038/ncb1109-1275.
Hamilton MJ, Suri M. Chapter Five-CDK13-related disorder. Advances in genetics. 2019;103:163–182. doi:10.1016/bs.adgen.2018.11.001.
Greifenberg AK, Honig D, Pilarova K, et al. Structural and functional analysis of the Cdk13/cyclin K complex. Cell Reports. 2016;14:320–331.
Chen H, Lin G, Huang C, et al. Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression. Exp Neurol. 2014;261:10–21. doi:10.1016/j.expneurol.2014.06.024.
Sifrim A, Hitz MP, Wilsdon A, et al. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nat Genet. 2016;48:1060–1065. doi:10.1038/ng.3627.
Rouxel F, Relator R, Kerkhof J, et al. CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature. Genetics Med. 2022;24:1096–1107.
Yakubov R, Ayman A, Kremer AK, et al. One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature. J Med Case Rep. 2019;13(1):386. doi:10.1186/s13256-019-2319-x.
Hamilton MJ, Caswell RC, Canham N, et al. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. J Med Gen. 2018;55:28–38.
Uehara T, Takenouchi T, Kosaki R, et al. Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. Eur J Med Genetics. 2018;61:243–247.
Bostwick BL, McLean S, Posey JE, et al. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017;9:73.
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