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
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
Department of Orthopedics, Pediatric Orthopedics services, Kasturba Medical College, Manipal University, Manipal, India.
Am J Med Genet A. 2016 Feb;170A(2):410-417. doi: 10.1002/ajmg.a.37447. Epub 2015 Nov 24.
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.
多中心性骨质溶解、结节病和关节病（MONA）是一种较少被描述的常染色体隐性遗传性骨骼发育不良，其特征为进行性骨质溶解和关节病。已知编码基质金属蛋白酶-2的MMP2基因发生失活突变会导致这种疾病。文献中已报道了15个MMP2基因突变的家系。在本研究中，我们对来自11个家系的13名个体进行了MMP2基因突变筛查，共鉴定出8个突变（5个新突变和3个已知变异）。我们对本队列及既往报道中所有经分子学证实患有MONA的个体的临床、影像学和分子学发现进行了描述，并对与MMP2相关的疾病进行了全面综述。
