CASE REPORT
Deciphering congenital heart defects, facial dysmorphism and intellectual developmental disorder (CHDFIDD) associated with constitutional CDK13 pathogenic variants – case report and literature review
1
Independent Laboratory of Genetic Diagnostics, Medical University, Lublin, Poland
2
Department of Children’s Haematology, Oncology and Transplantology, Children’s University Hospital, Lublin, Poland
3
MedGen Medical Centre, Warsaw, Poland
Corresponding author
Katarzyna Wojciechowska
Independent Laboratory of Genetic Diagnostics, Medical University of Lublin, Lublin, Poland
Independent Laboratory of Genetic Diagnostics, Medical University of Lublin, Lublin, Poland
Ann Agric Environ Med. 2024;31(1):147-150
KEYWORDS
congenital heart defectscase reportcyclin-dependent kinase 13facial dysmorphism and intellectual developmental disorderCDK13 gene
TOPICS
ABSTRACT
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).
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