New Phenotype (Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia) Clinical Trial
Official title:
Research Into the Molecular Bases of a New Phenotype Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia
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.
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