A SPECIFIC COLLAGEN TYPE-II GENE (COL2A1) MUTATION PRESENTING AS SPONDYLOPERIPHERAL DYSPLASIA

We report on a patient with a skeletal dysplasia characterized by shor t stature, spondylo-epiphyseal involvement, and brachydactyly E-Like c hanges, This condition has been described as spondylo-peripheral dyspl asia and the few published cases suggest autosomal dominant inheritanc e with considerable clinical variability, We found our sporadic case t o be due to a collagen type II defect resulting from a specific COL2A1 mutation, This mutation is the first to be located at the C-terminal outside the helical domain of COLSA1, A frameshift as consequence of a 5 bp duplication in exon 51 leads to a stop codon. The resulting trun cated C-propeptide region seems to affect helix formation and produces changes of chondrocyte morphology, collagen type II fibril structure and cartilage matrix composition. Our case with its distinct phenotype adds another chondrodysplasia to the clinical spectrum of type II col lagenopathies. (C) 1996 Wiley-Liss, Inc.