EFFICIENT STRATEGY FOR THE DETECTION OF MUTATIONS IN ACROGERIC EHLERS-DANLOS SYNDROME TYPE-IV

cDNA encoding the C-terminal domain (nt2283 to 3714) of type III colla gen was amplified by PCR in five overlapping products and examined for mutations in 13 patients with Ehlers-Danlos syndrome type IV (EDS IV) with uncharacterised lesions and in five control patients with known single base mutations, Six different point mutations were detected by denaturing gradient gel electrophoresis (DGGE), in addition to those i n the known controls, Four of seven patients who had no point mutation s in this region were shown to lack complete exons from their amplifie d cDNA. Mutations were detected in all patients with typical or acroge ric EDS IV, but only in one of four individuals with the atypical form of the disease. (C) 1995 Wiley-Liss, Inc.