Research Into the Molecular Bases of a New Phenotype Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia (BCL-2)

University Hospital Center (CHU) Dijon Bourgogne

Status

Completed

Conditions

New Phenotype (Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia)

Study type

Observational

Funder types

Other

Identifiers

NCT03651388

OLIVIER-FAIVRE AOI 2010

Details and patient eligibility

About

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.

Enrollment

4 patients

Sex

All

Volunteers

Accepts Healthy Volunteers

Inclusion and exclusion criteria

This study involves a single family, including 1 patient, father, mother and sister.