Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy

Am J Med Genet A. 2016 Feb;170A(2):410-417. doi: 10.1002/ajmg.a.37447. Epub 2015 Nov 24.


​Multicentric osteolysis nodulosis and arthropathy (MONA) is an infrequently described autosomal recessive skeletal dysplasia characterized by progressive osteolysis and arthropathy. Inactivating mutations in MMP2, encoding matrix metalloproteinase-2, are known to cause this disorder. Fifteen families with mutations in MMP2 have been reported in literature. In this study we screened thirteen individuals from eleven families for MMP2 mutations and identified eight mutations (five novel and three known variants). 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.

Keywords: MMP2; Torg-Winchester syndrome; multicentric osteolysis nodulosis and arthropathy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Child
  • Child, Preschool
  • Cohort Studies
  • Female
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Matrix Metalloproteinase 2 / genetics*
  • Molecular Sequence Data
  • Mutation / genetics*
  • Osteolysis / enzymology
  • Osteolysis / genetics*
  • Osteolysis / pathology
  • Prognosis
  • Sequence Homology, Amino Acid


  • MMP2 protein, human
  • Matrix Metalloproteinase 2

Supplementary concepts

  • Osteolysis hereditary multicentric