New Phenotype (Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia)
Conditions
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.
Interventions
None listed
Sponsors
Centre Hospitalier Universitaire Dijon
Study design
Observational model
FAMILY_BASED
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
This study involves a single family, including 1 patient, father, mother and sister.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Whole genome sequencing of BCL2 | Through study completion, an average of 2 years. |
| 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. |
Countries
France
Outcome results
None listed