Gene/phenotype/disorder under study
GTF2I
Abstract
Dear colleagues,
We are actively looking for individuals with heterozygous GTF2I alterations with a neurodevelopmental disorder. We have already published a case series which we are willing to enlarge. This gene is of interest because it is localized at the Williams-Beuren (WBS) locus and is the major gene involved in the NDD observed in WBS individuals.
Thank you for contacting us if you have any relevant interesting cases,
Best regards,
Jeanne Jury & Bertrand Isidor
Coordinating clinicians
Jeanne Jury – jeanne.jury@chu-rennes.fr
Bertrand Isidor – bertrand.isidor@chu-nantes.fr
Institution
Centre hospitalier universitaire de Nantes, Nantes, France
Centre hospitalier universitaire de Rennes, Rennes, 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