Gene/syndrome under study
NPR2 (OMIM #108961), NPR3 (OMIM #108962), FGFR3 (OMIM #134934), NPPC (OMIM #600296).
Epiphyseal chondrodysplasia Miura type (ORPHA #615923), Boudin-Mortier syndrome (ORPHA #619543), CATSHL syndrome (ORPHA #610474), Overgrowth syndrome with 2q37 translocation (ORPHA #498488).
Abstract
Our study aims to characterize the clinical and molecular spectrum and natural history of CNP-related overgrowth syndromes, showing significant phenotypic overlap.
We are gathering a cohort of patients with pathogenic variants involving NPR2, NPR3, FGFR3, NPPC genes, presenting with tall stature, slender habitus and arachnodactyly.
Coordinating clinicians
Dr. Massimiliano Rossi – massimiliano.rossi01@chu-lyon.fr
Dr. Jessica Benarrous – jessica.benarrous@chu-lyon.fr
Institution
Genetics Department, Lyon University Hospital, Lyon, 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