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Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy
Author(s) -
Bhavani Gandham SriLakshmi,
Shah Hitesh,
Shukla Anju,
Gupta Neerja,
Gowrishankar Kalpana,
Rao Anand P.,
Kabra Madhulika,
Agarwal Meenal,
Ranganath Prajnya,
Ekbote Alka V.,
Phadke Shubha R.,
Kamath Asha,
Dalal Ashwin,
Girisha Katta Mohan
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37447
Subject(s) - osteolysis , medicine , arthropathy , mmp2 , dysplasia , pathology , osteochondrodysplasia , dermatology , osteoarthritis , surgery , cancer , metastasis , alternative medicine
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. © 2015 Wiley Periodicals, Inc.