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A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant
Qiong Tang1, Dai Gong1, Xiao-Min Ye1
1Department of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou, People's Republic of China.
Insights
Cardiofaciocutaneous syndrome (CFCS) typically presents with heart defects, but this case shows atypical symptoms. Genetic analysis identified novel variants, expanding the known spectrum of CFCS.
Area of Science:
- Genetics
- Rare Diseases
- Dermatology
Background:
- Cardiofaciocutaneous syndrome (CFCS) is a rare genetic disorder characterized by craniofacial dysmorphism, cardiac abnormalities, ectodermal abnormalities, psychomotor delay, intellectual disability, and short stature.
- Approximately 300 cases of CFCS have been documented globally.
Observation:
- This report details a patient diagnosed with CFCS exhibiting craniofacial features, skin abnormalities, intellectual disability, and short stature, but notably lacking typical cardiac malformations.
- Genetic testing revealed three potentially harmful variants: one in MAP2K1 and two in ATP2B3 and CDC42BPB.
Findings:
- The patient's presentation suggests an atypical manifestation of CFCS, broadening the understanding of its clinical spectrum.
- The pathogenic significance of the identified MAP2K1, ATP2B3, and CDC42BPB variants in relation to the observed symptoms remains undetermined.
Implications:
- This case report contributes valuable clinical reference material for cardiofaciocutaneous syndrome.
- Further research is needed to establish the link between the identified genetic variants and the patient's specific clinical presentation.
Abstract:
Craniofacial dysmorphism, cardiac abnormalities, ectodermal abnormalities, psychomotor delay, intellectual disability, and short stature are all hallmarks of the extremely rare disorder known as cardiofaciocutaneous syndrome (CFCS). Although CFCS is considered rare, approximately 300 cases have been documented in the literature. In this report, we discuss a patient diagnosed with CFCS without the typical heart malformations but with craniofacial features, skin abnormalities, intellectual disability, and short stature. Genetic testing revealed the presence of three potentially harmful variants: one in the MAP2K1 gene and two in the ATP2B3 and CDC42BPB genes, the significance of which is currently not yet found. Our findings in this case report suggest that the clinical symptoms of CFCS may be atypical, thereby expanding our understanding of the symptom spectrum of the disease. Simultaneously, the link between the clinical symptoms of the patient and the two unknown pathogenic variants has not been established. This case report supplements existing clinical reference material by providing valuable insights into the specific scenario.
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