Independent Laboratory of Genetic Diagnostics, Medical University, Lublin, Poland.
Department of Children's Haematology, Oncology and Transplantology, Children's University Hospital, Lublin, Poland.
Ann Agric Environ Med. 2024 Mar 25;31(1):147-150. doi: 10.26444/aaem/175610. Epub 2023 Dec 7.
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).
有 21 种人类细胞周期蛋白依赖性激酶，它们参与细胞周期、转录、RNA 剪接、细胞凋亡和神经发生的调节。其中 5 种：CDK4、CDK5、CDK6、CDK10 和 CDK13 与人类表型有关。迄今为止，只有 62 名患者的 CDK13 基因突变。这些患者有发育迟缓、面部畸形、喂养困难、不同的结构性心脏和大脑缺陷。其中 36 人有影响 CDK13 蛋白激酶结构域的错义突变。我们的患者是迄今为止第一个报道的具有移码突变的人，该突变在 CDK13 基因的第一个外显子中引入了过早终止密码子。她有先天性心脏缺陷、面部畸形和智力发育障碍（CHDFIDD）的典型症状。
