Research Into the Molecular Bases of a New Phenotype Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia
- Conditions
- New Phenotype (Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia)
- Registration Number
- NCT03651388
- Lead Sponsor
- Centre Hospitalier Universitaire Dijon
- Brief Summary
This study involves a single family, including 1 patient, father, mother and sister. The patient presented with a new phenotype associating premature white hair, renal polycystosis, aortic dilation/dissection and lymphopenia. Samples were taken in order to identify the origin of the symptomatology highlighted in the index case.
In addition, it was observed that mice invalidated for bcl-2, normal at birth and indistinguishable from control mice, showed, after one week, a phenotype similar to that observed in this patient.
The overlap between the patient's main clinical signs (lymphopenia, white hair and polycystic renal disease) and the manifestations presented by the invalidated murine model for BCL2 suggests that its phenotype may be secondary to a Bcl-2 expression defect.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 4
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Bcl-2-regulating miRNA sequencing Through study completion, an average of 2 years. Study of the methylation of the BCL2 promoter Through study completion, an average of 2 years. Whole genome sequencing of BCL2 Through study completion, an average of 2 years.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Chu Dijon Bourogne
🇫🇷Dijon, France