Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene.
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.
Gok
Faysal
F
Department of Pediatric Nephrology and Rheumatology, Gulhane Military Medical Academy, School of Medicine, 06018 Etlik, Ankara, Turkey. faysalgok@yahoo.com
Crettol
Lauréane Mittaz
LM
Alanay
Yasemin
Y
Hacihamdioglu
Bulent
B
Kocaoglu
Murat
M
Bonafe
Luisa
L
Ozen
Seza
S
D000293:Adolescent; D002648:Child; D006801:Humans; D007592:Joint Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D020778:Matrix Metalloproteinase 2 / Q000172:deficiency / Q000235:genetics*; D009154:Mutation; D010014:Osteolysis / Q000000981:diagnostic imaging / Q000235:genetics*; D010211:Papilledema / Q000235:genetics; D011859:Radiography
D020778:Matrix Metalloproteinase 2