Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy

Gandham Srilakshmi Bhavani, Hitesh Shah, Anju Shukla, Neerja Gupta, Kalpana Gowrishankar, Anand P. Rao, Madhulika Kabra, Meenal Agarwal, Prajnya Ranganath, Alka V. Ekbote, Shubha R. Phadke, Asha Kamath, Ashwin Dalal, Katta Mohan Girisha

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14 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)410-417
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number2
DOIs
Publication statusPublished - 01-02-2016

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    Bhavani, G. S., Shah, H., Shukla, A., Gupta, N., Gowrishankar, K., Rao, A. P., Kabra, M., Agarwal, M., Ranganath, P., Ekbote, A. V., Phadke, S. R., Kamath, A., Dalal, A., & Girisha, K. M. (2016). Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy. American Journal of Medical Genetics, Part A, 170(2), 410-417. https://doi.org/10.1002/ajmg.a.37447