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Article

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.

American journal of medical genetics. Part A - 1 Feb 2016

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

Abstract excerpt

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...

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Identifiers

PMID: 26601801
DOI: 10.1002/ajmg.a.37447

Genes

MMP2

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