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Molecular genetic analysis of the EXT2 gene - causes of hereditary multiple exostoses in Yakuts

Abstract

Here we present molecular genetic studies of Yakut patients with hereditary multiple exostoses (HME), which caused by a rare mutation in the EXT2 gene. A total of 65 patients with clinical diagnosis of HME and their relatives from 30 unrelated families were examined. For molecular genetic analysis, massive parallel sequencing (MPS) and direct Sanger sequencing were used. In 16 patients from 4 families with a clinical diagnosis of HME, a rare heterozygous nonsense mutation c.751C> T was detected in exon 5 of the EXT2.

About the Authors

A. E. Yakovleva
Ammosov North-Eastern Federal University
Russian Federation


D. A. Petukhova
Ammosov North-Eastern Federal University
Russian Federation


A. L. Danilova
Ammosov North-Eastern Federal University
Russian Federation


A. L. Sukhomyasova
Ammosov North-Eastern Federal University
Russian Federation


N. R. Maksimova
Ammosov North-Eastern Federal University
Russian Federation


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For citations:


Yakovleva A.E., Petukhova D.A., Danilova A.L., Sukhomyasova A.L., Maksimova N.R. Molecular genetic analysis of the EXT2 gene - causes of hereditary multiple exostoses in Yakuts. Medical Genetics. 2020;19(8):59-60. (In Russ.)

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ISSN 2073-7998 (Print)