A novel matrix metalloproteinase-2 mutation in two Egyptian siblings with Winchester syndrome

Abstract

Background Winchester syndrome is one of multicentric osteolysis nodulosis and arthropathy spectrum, which is an autosomal recessive skeletal dysplasia. Homozygous or compound heterozygous mutations in matrix metalloproteinase-2 (MMP-2) gene are responsible for the condition. Approximately 21 mutations of MMP-2 gene have been reported to accompany multicentric osteolysis nodulosis and arthropathy. Patients and methods In this study, we report two Egyptian siblings diagnosed with Winchester syndrome based on clinical and radiological evaluation and confirmed by finding a novel homozygous mutation at exon 4 of MMP-2 gene by molecular studies. We also reviewed the literature for previously published patients with nonsense mutations of that gene. Results The detected MMP-2 mutation is the sixth reported nonsense mutation and the first pathogenic mutation detected in exon 4. Conclusion Phenotypic analysis of previously reported patients with different MMP-2 mutations including our present patients showed no genotype/phenotype correlation.