Molecular Genetic Study of Multiple Hereditary Exostoses in the EXT2 Gene

DOI

10.2991/ahsr.k.220103.050How to use a DOI?

Keywords

multiple hereditary exostoses; MHE; EXT2 gene

Abstract

Multiple hereditary exostoses (MHE) is a genetically heterogeneous disease with an autosomal dominant type of inheritance, a very large proportion of family cases. The incidence of the disease in various Caucasian populations is from 1.3 to 2 per 100 thousand. The clinical picture is characterized by the presence of multiple cartilaginous outgrowths in the metaphysics of long tubular bones. The most common variant is mutations in EXT genes. For the first time in the Republic of Sakha (Yakutia), a molecular genetic analysis of multiple exostosis chondrodysplasia was carried out. We investigated 57 patients from 31 unrelated families with a clinical diagnosis of MECHD by mass parallel sequencing (MPS) for all coding EXT2 regions followed by validation of results by direct Sanger sequencing. As a result, frequent major mutations c.409delA (p.Ile137fs), c.751C > T (p.Gln251 *) in the EXT2 gene in Yakuts were revealed.

Copyright

© 2022 The Authors. Published by Atlantis Press International B.V.

Open Access

This is an open access article under the CC BY-NC license.

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TY  - CONF
AU  - Aleksandra Yakovleva
AU  - Anastasia Danilova
AU  - Diana Petukhova
AU  - Aitalina Sukhomyasova
AU  - Nadezda Maksimova
PY  - 2022
DA  - 2022/01/17
TI  - Molecular Genetic Study of Multiple Hereditary Exostoses in the EXT2 Gene
BT  - Proceedings of the Conference on Health and Wellbeing in Modern Society (CHW 2021)
PB  - Atlantis Press
SP  - 251
EP  - 255
SN  - 2468-5739
UR  - https://doi.org/10.2991/ahsr.k.220103.050
DO  - 10.2991/ahsr.k.220103.050
ID  - Yakovleva2022
ER  -