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.
Ammosov | North-Eastern Federal University named after M.K. Ammosov | Republican Hospital №1 –
«National Medical Center» | North-Eastern Federal University named after M.K. Ammosov, Republican
Hospital №1 – «National Medical Center» | North-Eastern Federal University named after M.K. Ammosov
Motivation and Aim: Multiple hereditary exostoses (MHE) or multiple osteochondromas
(MO) (OMIM 133700, OMIM 133701) is a genetically heterogeneous disease with an
autosomal dominant mode of inheritance. The most common cause is mutations in the EXT
genes, which are responsible for at least 70% of all cases of MHE. Three loci of the EXT1,
EXT2, and EXT3 genes have been described, mapped at 8q24, 11p12, and 19p, respectively.
Mutations in the EXT2 gene are three times less common than in the EXT1 gene; only a few
descriptions are known for the EXT3 locus. MHE intensively develops during the period
of physiological growth of the skeleton, in childhood and adolescence, it is represented by
generalized forms of skeletal damage with numerous progressive deformities of bones and
joints, shortening and secondary changes in bones, which can cause clinical, sociopsychological problems that affect the quality of life of the patient. Exostoses cause
compression of large vessels and nerves, which requires repeated surgical intervention to
remove them during the period of growth and development of the organism.
On the territory of Russia, studies of the molecular genetic cause of MHE are rare, and in
the Republic of Sakha (Yakutia) such studies have not been carried out. Therefore, the study
of multiple hereditary exostoses in Yakutia is both a fundamental scientific problem and a
medical and social task for diagnosing, preventing and predicting the course of this
hereditary disease. This paper presents the results of a molecular genetic study to search
for mutations in the EXT1 gene among patients with MHE in Yakutia.