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CDH5, a Possible New Candidate Gene for Genetic Testing of Lymphedema
Sandro Michelini1, Maurizio Ricci2, Bruno Amato3
1Department of Vascular Rehabilitation, San Giovanni Battista Hospital, Rome, Italy.
Insights
Genetic variants in the CDH5 gene may contribute to lymphedema development. This study identified novel CDH5 variants in patients with lymphatic malformations, suggesting CDH5 as a potential diagnostic target.
Area of Science:
- Genetics
- Vascular Biology
- Molecular Medicine
Background:
- CDH5 encodes a cadherin crucial for vascular integrity and lymphatic function.
- Lymphedema is a condition characterized by lymphatic system dysfunction.
- Identifying genetic predispositions for lymphedema is essential for diagnosis and treatment.
Purpose of the Study:
- To investigate the role of the CDH5 gene in lymphatic malformations and lymphedema.
- To identify novel CDH5 variants associated with lymphedema in patients negative for known lymphedema gene variants.
Main Methods:
- Next Generation Sequencing (NGS) of the CDH5 gene in 235 Italian lymphedema patients.
- Analysis of identified variants in available family members.
- In silico modeling of detected CDH5 variants.
- Lymphoscintigraphy to assess lymphatic function in affected family members.
Main Results:
- Six distinct variants (five missense, one nonsense) in the CDH5 gene were identified in the patient cohort.
- Preliminary evidence suggests a potential link between CDH5 variants and lymphedema onset.
- Lymphatic abnormalities were observed in family members carrying the identified CDH5 variants.
Conclusions:
- CDH5 variants may contribute to the pathogenesis of lymphedema.
- Further in vitro studies are required to validate the functional impact of these variants.
- CDH5 is proposed as a candidate gene for screening in lymphedema patients.
Abstract:
Expressed by endothelial cells, CDH5 is a cadherin involved in vascular morphogenesis and in the maintenance of vascular integrity and lymphatic function. The main purpose of our study was to identify distinct variants of the CDH5 gene that could be associated with lymphatic malformations and predisposition for lymphedema. We performed Next Generation Sequencing of the CDH5 gene in 235 Italian patients diagnosed with lymphedema but who tested negative for variants in known lymphedema genes. We detected six different variants in CDH5 five missense and one nonsense. We also tested available family members of the probands. For family members who carried the same variant as the proband, we performed lymphoscintigraphy to detect any lymphatic system abnormalities. Variants were modeled in silico. The results showed that CDH5 variants may contribute to the onset of lymphedema, although further in vitro studies are needed to confirm this hypothesis. Based on our findings, we propose CDH5 as a new gene that could be screened in patients with lymphedema to gather additional evidence.
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