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., ...Daha Fazla

EUROPEAN JOURNAL OF PEDIATRICS, cilt.169, sa.3, ss.363-367, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 169 Sayı: 3
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1007/s00431-009-1028-7
  • Dergi Adı: EUROPEAN JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.363-367
  • Anahtar Kelimeler: 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
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

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.