Search for mutations in EXT1 and EXT2 genes in patients with multiple exostatic chondrodysplasia in the Republic of Sakha (Yakutia)
Abstract
The article presents the results of the fisrt molecular genetic study in the EXT1 and EXT2 genes among patients with hereditary multiple exostoses (HME) ant their relatives. A rare nonsense mutation c.751С>T (p.Gln251*) in exon 5 of ЕХТ2 gene in a heterozygous state was detected. That was the cause of HME among patients of the Yakut ethnic group. At present we are conducting the investigation to search mutations in ЕХТ1 and ЕХТ2 genes in other families with HME.
Supporting agencies: The research is conducted under the state target program of the Ministry of Science and Higher Education of the Russian Federation: project FSRG-2020- 0014 “Genomic of Arctic: epidemiology, hereditary and pathology”. Molecular genetic studies were carried out in the Arctic Innovation Centre of the “Ammosov Northeastern Federal University”.
About the Authors
A. E. Yakovleva
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
Yakovleva Alexandra Eremeevna - Research assistant of the Research Laboratory ‘Molecular Medicine and Human Genetics’
N. R. Maksimova
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
Maksimova Nadezhda Romanovna - Doctor of Medical Sciences, Head of the Research Laboratory ‘Molecular Medicine and Human Genetics’
A. L. Sukhomyasova
Ammosov North-Eastern Federal University;
Republican Hospital # 1 - National Centre of Medicine
Russian Federation
Russian Federation
Sukhomyasova Aitalina Lukichna - Candidate of Medical Sciences, Deputy Head of the Research Laboratory ‘Molecular Medicine and Human Genetics’;
Head of the Medical - Genetic center
A. L. Danilova
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
Danilova Anastasia Lukichna - Candidate of Biological Sciences, Senior Researcher of the Research Laboratory ‘Molecular Medicine and Human Genetics’
D. A. Petukhova
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
Petukhova Diana Aleksandrovna – Project Engineer of the Research Laboratory ‘Molecular Medicine and Human Genetics’
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For citations:
Yakovleva A.E., Maksimova N.R., Sukhomyasova A.L., Danilova A.L., Petukhova D.A. Search for mutations in EXT1 and EXT2 genes in patients with multiple exostatic chondrodysplasia in the Republic of Sakha (Yakutia). Yakut Medical Journal. 2020;(4):31-33.
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