Search for patients with a deletion of the first 2 non-coding exons of the RAI1 gene

Targeted gene(s)/phenotype under study :

  • Gene: RAI1 (OMIM * 607642)

Abstract :

RAI1 is a gene involved in Smith-Magenis syndrome, with a phenotype that includes intellectual disability, recognisable morphologic traits, and sleep disorders. We describe a new phenotype, related to the deletion of the first two non-coding exons of RAI1 and we are collecting patients with a deletion of the first 2 non-coding exons in order to better describe the phenotype and confirm the pathophysiological mechanism.

Coordinating clinicians /researchers: 

  • Dr Colin Estelle and Tessarech Marine

Institution :

CHU Angers

Angers, France

Contact : 

marine.tessarech@chu-angers.fr

escolin@chu-angers.fr      

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples : NO
  • Resampling of patients : YES
  • Linked to a translational/basic research project? YES