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Inactivating mutations in MMP2, encoding matrix metalloproteinase\u20102, 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. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37447","type":"journal-article","created":{"date-parts":[[2015,11,25]],"date-time":"2015-11-25T07:03:42Z","timestamp":1448435022000},"page":"410-417","source":"Crossref","is-referenced-by-count":35,"title":["Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy"],"prefix":"10.1002","volume":"170","author":[{"given":"Gandham SriLakshmi","family":"Bhavani","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College Manipal University Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitesh","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Orthopedics, Pediatric 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