Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene

Gok F., Crettol L. M., ALANAY Y., Hacihamdioglu B., Kocaoglu M., Bonafe L., ...More

EUROPEAN JOURNAL OF PEDIATRICS, vol.169, no.3, pp.363-367, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 169 Issue: 3
  • Publication Date: 2010
  • Doi Number: 10.1007/s00431-009-1028-7
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.363-367
  • Keywords: Osteolysis syndromes, Matrix metalloproteinase 2 gene mutation, Arthropathy, Chronic papilledema, Subcutaneous nodules, IDIOPATHIC MULTICENTRIC OSTEOLYSIS, WINCHESTER-SYNDROME, MMP2 MUTATION, MATRIX-METALLOPROTEINASE-2, NEPHROPATHY, OSTEOBLAST, ARTHRITIS
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No


The two well-described osteolysis syndromes associated with matrix metalloproteinase-2 deficiency and mutations in the metalloproteinase-2 gene are Torg-Winchester syndrome and nodulosis-arthropathy-osteolysis variant. They are characterized by carpal-tarsal destruction, subcutaneous nodules, and generalized osteoporosis and show autosomal recessive inheritance. Herein, we report two siblings affected with a novel mutation in matrix metalloproteinase 2 gene and discuss their clinical and radiographic findings.