We questioned whether sporadic idiopathic multicentric osteolysis with nephropathy is allelic with nodulosis-arthropathy osteolysis syndrome and undertook sequence analysis of the matrix metalloproteinase 2 gene in three unrelated affected boys.
A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy.
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.
We characterize the clinical, radiographic and molecular findings in all individuals with molecularly proven MONA from the present cohort and previous reports, and provide a comprehensive review of the MMP2 related disorders.