A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant
Michael Gibbs1, Alysa Poulin2, Yanwei Xi3
1Department of Pediatrics, Division of Medical Genetics, University of Saskatchewan, Saskatoon, Canada.
Case Reports in Genetics
|June 23, 2023
Summary
This study reports the first prenatal diagnosis of CDK13-related disorder, a rare genetic condition. A novel gene variant was identified, leading to termination and detailed fetal examination.
Area of Science:
- Genetics
- Developmental Biology
- Molecular Biology
Background:
- Cyclin-dependent kinase 13 (CDK13) is crucial for cell cycle regulation.
- CDK13-related disorder is a recently identified genetic condition with diverse clinical manifestations.
- These include intellectual disability, developmental delays, and congenital abnormalities.
Observation:
- A case of prenatal diagnosis of CDK13-related disorder is presented.
- Cystic hygroma and thickened nuchal fold prompted genetic investigation.
- A novel de novo likely pathogenic variant in the CDK13 gene was detected.
Findings:
- The identified CDK13 variant (c.900C>G, p.Tyr300) is associated with the disorder.
- Pregnancy termination allowed for autopsy and detailed phenotypic description of the fetus.
- This represents the first reported prenatal presentation with comprehensive fetal phenotyping.
Implications:
- This case expands the understanding of CDK13-related disorder's prenatal manifestations.
- Early prenatal diagnosis can inform clinical management and family counseling.
- Further research into CDK13 function and associated disorders is warranted.
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