Closed
Targeted gene under study:
SCNM1
Abstract
Recently, SCNM1 gene has been involved in oral-facial-digital (OFD) syndrome associated with lobulated tongue, hypodontia, facial dysmorphism, bilateral postaxial polydactyly, brachysyndactyly. We recently diagnosed three novel families with OFD syndrome. Through this call, we are looking to additional cases with ciliopathy, in order to define the clinical phenotype and genotypic spectrum of this rare disorder.
Coordinating clinician
Ange-Line Bruel – ange-line.bruel@u-bourgogne.fr
Institution
CHU Dijon, 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