{"id":15615,"date":"2022-06-21T11:18:02","date_gmt":"2022-06-21T04:18:02","guid":{"rendered":"https:\/\/bgrssb.icgbio.ru\/2022\/?p=15615"},"modified":"2022-09-20T10:32:56","modified_gmt":"2022-09-20T03:32:56","slug":"the-spectrum-of-mutations-in-the-ext1-gene-among-patients-with-multiple-hereditary-exostoses-in-the-republic-of-sakha-yakutia-2","status":"publish","type":"post","link":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/2022\/06\/21\/the-spectrum-of-mutations-in-the-ext1-gene-among-patients-with-multiple-hereditary-exostoses-in-the-republic-of-sakha-yakutia-2\/","title":{"rendered":"The spectrum of mutations in the EXT1 gene among patients with Multiple Hereditary Exostoses in the Republic of Sakha (Yakutia)"},"content":{"rendered":"<p><em>by Yakovleva Aleksandra | Danilova Anastasiya | Petukhova Diana | Golikova Polina | Fedorov Afanasiy |<\/em><br \/>\n<em>Nikolaeva Irina | Sukhomyasova Aitalina | Maksimova Nadezda | North-Eastern Federal University named<\/em><br \/>\n<em>after M.K. Ammosov | North-Eastern Federal University named after M.K. Ammosov | North-Eastern<\/em><br \/>\n<em>Federal University named after M.K. Ammosov | North-Eastern Federal University named after M.K.<\/em><br \/>\n<em>Ammosov | North-Eastern Federal University named after M.K. Ammosov | Republican Hospital \u21161 \u2013<\/em><br \/>\n<em>\u00abNational Medical Center\u00bb | North-Eastern Federal University named after M.K. Ammosov, Republican<\/em><br \/>\n<em>Hospital \u21161 \u2013 \u00abNational Medical Center\u00bb | North-Eastern Federal University named after M.K. Ammosov<\/em><\/p>\n<p><strong>Motivation and Aim<\/strong>: Multiple hereditary exostoses (MHE) or multiple osteochondromas<br \/>\n(MO) (OMIM 133700, OMIM 133701) is a genetically heterogeneous disease with an<br \/>\nautosomal dominant mode of inheritance. The most common cause is mutations in the EXT<br \/>\ngenes, which are responsible for at least 70% of all cases of MHE. Three loci of the EXT1,<br \/>\nEXT2, and EXT3 genes have been described, mapped at 8q24, 11p12, and 19p, respectively.<br \/>\nMutations in the EXT2 gene are three times less common than in the EXT1 gene; only a few<br \/>\ndescriptions are known for the EXT3 locus. MHE intensively develops during the period<br \/>\nof physiological growth of the skeleton, in childhood and adolescence, it is represented by<br \/>\ngeneralized forms of skeletal damage with numerous progressive deformities of bones and<br \/>\njoints, shortening and secondary changes in bones, which can cause clinical, sociopsychological problems that affect the quality of life of the patient. Exostoses cause<br \/>\ncompression of large vessels and nerves, which requires repeated surgical intervention to<br \/>\nremove them during the period of growth and development of the organism.<br \/>\nOn the territory of Russia, studies of the molecular genetic cause of MHE are rare, and in<br \/>\nthe Republic of Sakha (Yakutia) such studies have not been carried out. Therefore, the study<br \/>\nof multiple hereditary exostoses in Yakutia is both a fundamental scientific problem and a<br \/>\nmedical and social task for diagnosing, preventing and predicting the course of this<br \/>\nhereditary disease. This paper presents the results of a molecular genetic study to search<br \/>\nfor mutations in the EXT1 gene among patients with MHE in Yakutia.<\/p>\n<a href=\"https:\/\/bgrssb.icgbio.ru\/2022\/wp-content\/uploads\/sites\/3\/2022\/06\/Aleksandra-Yakovleva_corrected.pdf\" class=\"pdfemb-viewer\" style=\"\" data-width=\"max\" data-height=\"max\"  data-toolbar=\"bottom\" data-toolbar-fixed=\"off\">Aleksandra Yakovleva_corrected<br\/><\/a>\n","protected":false},"excerpt":{"rendered":"<p>by Yakovleva Aleksandra | Danilova Anastasiya | Petukhova Diana | Golikova Polina | Fedorov Afanasiy | Nikolaeva Irina | Sukhomyasova Aitalina | Maksimova Nadezda | North-Eastern Federal University named after M.K. Ammosov | North-Eastern Federal University named after M.K. Ammosov | North-Eastern Federal University named after M.K. Ammosov | North-Eastern Federal University named after M.K. [&hellip;]<\/p>\n","protected":false},"author":3967,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[8],"tags":[21,22,23,24,25],"_links":{"self":[{"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/posts\/15615"}],"collection":[{"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/users\/3967"}],"replies":[{"embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/comments?post=15615"}],"version-history":[{"count":1,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/posts\/15615\/revisions"}],"predecessor-version":[{"id":15617,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/posts\/15615\/revisions\/15617"}],"wp:attachment":[{"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/media?parent=15615"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/categories?post=15615"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/bgrssb.icgbio.ru\/2022\/ru\/wp-json\/wp\/v2\/tags?post=15615"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}