Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. Moreover EDS type VIIC patients with a nonsense mutation in ADAMTS2 enzymes which excise the N-propeptide of procollagens were recently described with multiple tooth agenesis, dentin structural anomalies, and dysplastic roots.
The causative gene for type EDS type VIIC, ADAMTS2, has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis.
