Gene-phenotypic analysis in patients with multiple hereditary exostoses in the Yakutian population

Background. Multiple hereditary exostoses (MHE) or multiple osteochondromas (MO) (OMIM 133700, OMIM 133701) is a genetically heterogeneous disease manifested by generalized forms of skeletal damage with multiple progressive bone and joint deformities. The disease has an autosomal dominant type of inheritance, and the proportion of familial cases is exceedingly high. The article analyzes gene-phenotypic associations in a group of patients with multiple hereditary exostoses. Aim: to predict the development of clinical forms of MHE to improve the quality of life of patients. Methods. The results of clinical examination of 85 patients with MHE from 41 families with the results of molecular genetic studies were included in the study. The association of exostoses localization with clinical forms of MHE was analyzed by logistic regression with odds ratio calculation. Prognostic mathematical models were constructed. Congruence tables with the calculation of Fisher’s exact criterion were analyzed. Statistical analysis was performed using the application program package IBM SPSS Statistics 23.0. Results. According to the results of statistical analysis, it was found that clinical manifestations (exostoses localizations) in MHE depended on a specific mutation rather than on the gene (EXT1 or EXT2) in general. Individual combinations of exostoses localization were also shown to influence the development of clinical forms of the disease. Conclusion. The presence of stable gene-phenotypic associations makes it possible to predict the further clinical course of MHE in Yakut patients from the time of molecular genetic diagnosis.

multiple hereditary exostoses, EXT1, EXT2, exostosin, Yakuts

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