Genotype-Phenotype Correlation Study in 529 Patients with Multiple Hereditary Exostoses: Identification of “Protective” and “Risk” Factors

• DOI: 10.2106/jbjs.j.00949
• Publication Date: 2011-12-28T20:24:27Z
• Authors: Elena Pedrini; Ivy Jennes; Morena Tremosini; Annamaria Milanesi; Marina Mordenti; Alessandro Parra; Federica Sgariglia; Monia Zuntini; Laura Campanacci; Nicola Fabbri; Elettra Pignotti; Wim Wuyts; Luca Sangiorgi
• Keywords: Identification; Hereditary multiple exostoses

Multiple hereditary exostoses is an autosomal dominant skeletal disorder characterized by wide variation in clinical phenotype. The aim of this study was to evaluate whether the severity disease linked with a specific genetic background.Five hundred and twenty-nine patients multiple from two different European referral centers participated study. According new classification based on presence or absence deformities functional limitations, phenotype assessed as mild (the both aspects), intermediate, severe concurrent aspects). An identical molecular screening protocol denaturing high-performance liquid chromatography multiplex ligation-dependent probe amplification performed institutions.In our cohort patients, variables such female sex (odds ratio = 1.840; 95% confidence interval, 1.223 2.766), fewer than five sites 7.588; 3.479 16.553), EXT2 mutations 2.652; 1.665 4.223), EXT1/2 1.975; 1.051 3.713) described phenotype; contrast, associated male 2.431; 1.544 3.826), EXT1 6.817; 1.003 46.348), more twenty affected 2.413; 1.144 5.091). Malignant transformation observed 5% no evidence association between chondrosarcoma onset EXT mutation, sex, disease, number lesions detected.The identified "protective" "risk" factors, well proposed system, represent helpful tools for management follow-up exostoses; moreover, homogeneous cohorts useful studies pathogenesis exostoses, have been identified.