Clinical and Mutation Profile of Multicentric Osteolysis Nodulosis and Arthropathy

Gandham, SriLakshmi Bhavani and Shah, Hitesh and Shukla, Anju and Kamath, Asha and Girisha, KM (2015) Clinical and Mutation Profile of Multicentric Osteolysis Nodulosis and Arthropathy. American Journal of Medical Genetics. pp. 1-8.

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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 forMMP2mutations and identified eight mutations (five novel and three known variants).We characterize the clinical, radiographic and molecular findings in all individuals with molecularly provenMONAfrom the present cohort and previous reports, and provide a comprehensive review of the MMP2 related disorders.

Item Type: Article
Uncontrolled Keywords: Multicentric osteolysis nodulosis and arthropathy; Torg-Winchester syndrome; MMP2
Subjects: Medicine > KMC Manipal > Anatomy
Medicine > KMC Manipal > Community Medicine
Medicine > KMC Manipal > Orthopaedics
Depositing User: KMC Library
Date Deposited: 03 Dec 2015 15:54
Last Modified: 03 Dec 2015 15:54
URI: http://eprints.manipal.edu/id/eprint/144664

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