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
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
