Targeted gene(s)/phenotype under study
- Gene BCL11B, no Orphanet number, OMIM :663309 intellectual developmental disorder with speech delay, dysmorphic facies, and T cell abnormalities IDDSFTA disorder; 618092
- Aims: Better delineation of 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)
BCL11B related disorder, also known as intellectual developmental disorder with speech delay, dysmorphic facies, and T cell abnormalities (IDDSFTA; OMIM 618092) syndrome, is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and immunological abnormalities. To date 17 individuals with BCL11B variants have been described in literature.
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 BCL11B intragenic pathogenic variants. This work will conduct to a MD thesis of a clinical resident geneticist in France.
Physician that will participate 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.
Coordinating clinicians /researchers
Pr David GENEVIEVE, MD, PhD
Genetic Department for rare disease and personalised medicine
Arnaud de VILLENEUVE Hospital
371 Doyen G Giraud Avenue
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples : Yes (but only epigenetic data)
- Resampling of patients : No
- Linked to a translational/basic research project? No