Targeted gene under study:
OMIM # 616708 ; DESANTO-SHINAWI SYNDROME; DESSH
Abstract
The aim of this retrospective, multicenter study would be to extend the phenotypic spectrum of DeSanto Shinawi Syndrome and improve our knowledge of its evolution. To this end, we would like to issue a call for international collaboration in order to create a series of new genetically diagnosed patients, not yet described in previous publications, and with a larger number of individuals evaluated in a single study. One of the aims would be to establish a set of standardized clinical and paraclinical examinations to be carried out at diagnosis and for follow-up of affected patients. This would enable patients, their families and the caregivers involved to better anticipate future management.
Coordinating clinician
Dr Florian CHERIK – mgdelormeguinand@chu-clermontferrand.fr, fcherik@chu-clermontferrand.fr
Institution
ADERGEN (Génétique Clinique), CHU of Clermont-Ferrand, France
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No