Research Into the Molecular Bases of a New Phenotype Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia
Overview
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.
Study Type
- Study Type: Observational
- Study Design
- Time Perspective: Other
- Study Primary Completion Date: June 2012
Arms, Groups and Cohorts
- Patient
- Patient with a new phenotype combining premature white hair, renal polycystosis, aortic dilation/dissection and lymphopenia
- Related parties of the 1st degree
- 1st degree related family of Group A patient
Clinical Trial Outcome Measures
Primary Measures
- Whole genome sequencing of BCL2
- Time Frame: Through study completion, an average of 2 years.
- Bcl-2-regulating miRNA sequencing
- Time Frame: Through study completion, an average of 2 years.
- Study of the methylation of the BCL2 promoter
- Time Frame: Through study completion, an average of 2 years.
Participating in This Clinical Trial
This study involves a single family, including 1 patient, father, mother and sister.
Gender Eligibility: All
Minimum Age: N/A
Maximum Age: N/A
Are Healthy Volunteers Accepted: Accepts Healthy Volunteers
Investigator Details
- Lead Sponsor
- Centre Hospitalier Universitaire Dijon
- Provider of Information About this Clinical Study
- Sponsor
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