Targeted gene(s)/phenotype under study :
- Gene YY1, Orphanet number: 506358, OMIM: 600013; Gabriele-de-Vries syndrome OMIM: 617557
- Clinical phenotype
- Neuropsychological study based on WISC/WAIS standard tests
- Brain MRI characteristic
- Epigenetic signature on blood DNA samples in collaboration with Bekim SADICOVIK (London CANADA)
YY1 related disorder, also known as Gabriele-de-Vries syndrome, is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and neuroimaging abnormalities.
The aims of this study are first to better delineate the clinical phenotype, as well as the neuropsychological profile, and the brain MRI characteristics; and, second, to study the epigenetic signatures in a cohort of individuals with YY1 intragenic pathogenic variants. This work will conduct to a MD thesis of a clinical geneticist resident in France.
We will happy to collaborate with physician from the ERN ITHACA consortium.
Physician will fill an Excel sheet regarding the clinical and neuropsychological assessment. We will be also happy to have either CD-ROM or a link to have access to the brain MRI data as well as a DNA sample with a minimum 0.5ug of peripheral blood genomic DNA. We will gather the DNA in Montpellier genetic lab (Dr Mouna BARAT) and send the batch to the Dr Sadikovic’ lab.
Between 2019 and 2020, we have already recruited data from individuals with YY1 pathogenic variants from several European and American genetic centres.
Coordinating clinician: Pr David GENEVIEVE, MD, PhD
Institution: Genetic Department for rare disease and personalised medicine
Arnaud de VILLENEUVE Hospital : 371 Doyen G Giraud Avenue 34000 Montpellier
Specific requirements beyond clinical data and genotype data sharing:
Re-analysis of DNA samples: Y
Resampling of patients: N
Linked to a translational/basic research project? N