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

Abstract

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.

• Authors: Faysal Gok, Lauréane Mittaz Crettol, Yasemin Alanay, Bulent Hacihamdioglu, Murat Kocaoglu, Luisa Bonafe, Seza Ozen
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 169 Issue 3 Pg. 363-7 (Mar 2010) ISSN: 1432-1076 [Electronic] Germany
• PMID: 19653001 (Publication Type: Case Reports, Journal Article)

Chemical References

• Matrix Metalloproteinase 2

Topics

• Adolescent
• Child
• Humans
• Joint Diseases (diagnostic imaging, genetics)
• Male
• Matrix Metalloproteinase 2 (deficiency, genetics)
• Mutation
• Osteolysis (diagnostic imaging, genetics)
• Papilledema (genetics)
• Radiography