Gene/phenotype/disorder under study
RAB39B (MIM *300774)
Abstract
Dear colleagues,
In our French genetic clinic department, we met a three-generation family with a pathogenic RAB39B variant.
Affected individuals presented with intellectual development disorder, macrocephaly, early-onset Parkinson’s disease and for one woman a premature ovarian insufficiency.
We aim to constitute a large cohort of individuals and families carrying a RAB39B pathogenic variant.
We will collect personal and familial medical history, head circumference, and any interesting findings in clinical or paraclinical examinations.
If you are interested in contributing to this cohort, please contact us.
Coordinating clinician
Dr Auriane Cospain – auriane.cospain@chu-rennes.fr ; sylvie.odent@chu-rennes.fr
Institution
Rennes University Hospital
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No