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

Gok, Faysal; Crettol, Laureane; ALANAY, Yasemin; Hacihamdioglu, Bulent; Kocaoglu, Murat; Bonafe, Luisa; ÖZEN, SEZA

doi:10.1007/s00431-009-1028-7

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, Scopus)

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
Hacettepe Üniversitesi Adresli: Evet

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.