CDK13 related disorder : clinical phenotype, neuropsychological profile, brain MRI characteristics and epigenetic signatures

Targeted gene(s)/phenotype under study : 

Ideally patients with the triad, including:

  • Gene CDK13, no Orphanet number, OMIM : 663309 CHDFIDD disorder OMIM : 617360
  • Clinical phenotype better delineation
  • Neuropsychological study based on WISC/WAIS standard tests
  • Brain MRI characteristic
  • Epigenetic signature on blood DNA samples in collaboration with Bekim SADICOVIK (London CANADA)

Abstract : 

CDK13 related disorder, also known as CHDFIDD disorder, is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and and visceral malformations.

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 work for genetic degree 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.

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

Contact: d-genevieve@chu-montpellier.fr

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