Molecular-genetic causes of multiple exostosis chondrodysplasia
https://doi.org/10.25789/YMJ.2018.63.31
Abstract
The authors made a review of domestic and foreign literature on the molecular and genetic causes of multiple hereditary exostosis. The main molecular genetic causes of multiple hereditary exostosis are mutations in the genes of exostozin 1 (EXT1) (OMIM 608177) and exostozin 2 (EXT2) (OMIM 608210).
About the Authors
A. E. Yakovleva
Medical Institute of M.K. Ammosov NEFU
Russian Federation
Russian Federation
Yakovleva Alexandra Eremeevna – Junior Researcher, graduate student III course, Academic Scientific Laboratory “Genomic Medicine”
Yakutsk
N. R. Maksimova
Medical Institute of M.K. Ammosov NEFU
Russian Federation
Russian Federation
Maksimova Nadezhda Romanovna – MD, Chief Researcher, Academic Scientific Laboratory “Genomic Medicine”
Yakutsk
References
1. Bogolepova N.N. X-ray diagnostics of benign tumors and tumor-like bone formations in children / N.N. Bogolepova, E.V. Matyushevskaya // Vestnik of the Chel. Reg. – 2016. – No.4(34). – P. 126-128.
2. Bochkov N.P. Hereditary diseases: national leadership / ed. Acad. RAMS N.P. Bochkov, acad. RAMS E.K. Ginter, acad. RAMS V.P. Puzyrev. – M.: GEOTAR – Media, 2012. – P.935.
3. Genetic studies of the population of Yakutia / FGBU «Yakut. sci. center med. problems of SB RAMS», FGBU «Institute of Medical genetics» SB RAMS; [ed. V.P. Puzyrev, M.I. Tomsky]. - Yakutsk, 2014. - 333 p.
4. Zotkin A.V. Surgical treatment of children with exostozny chondrodysplasia of bones of the upper and lower extremities: the author’s abstract Dis. ... cand. med. sciences / A.V. Zotkin. - Penza: 2011.-3 p.
5. Zatsepin S.T. Bone pathology of adults: a guide for doctors / S.T. Zatsepin. – M.: Medicine, 2001. - 640 p.
6. Lagunova I.G. Clinical and X-ray diagnostics of skeletal dysplasia: monograph / I.G. Lagunov. - M.: Medicine, 1989. - 31 p.
7. Medico-genetic study of the population of the Republic of Tatarstan. VII. Variety of hereditary pathology in eight regions / R.A. Zinchenko [et al.] // Med. genetics. – 2014. – Vol.11. - P. 15-29.
8. Results of treatment of children with exostosis chondrodysplasia of complex anatomical localization / V.V. Fokhtin [et al.] // Modern technologies in diagnostics and treatment. -2014. №1. - P. 13-16.
9. Family case of segregation of hereditary motor-sensory neuropathy 1B type with multiple exostoses in monozygotic twins / V.P. Fedotov [et al.] // Neuromuscular diseases. - 2015. № 1. - P.48-52.
10. Shishkina N.S. The combination of diabetes mellitus and the syndrome of multiple exostotic bonecartilaginous chondrodysplasia / N.S. Shishkina [et al.] // Diabetes mellitus. - 2004. - Vol.4. - P. 34-36.
11. Chesnokova G.G. Study of structural anomalies and point mutations of EXT1 and EXT2 genes with multiple exostosis chondrodysplasia and sporadic malignant neoplasms: author’s abstract. Dis. ... cand. Biol. Sciences: 03.00.15 / G.G. Chesnokova. – M., 1999. – 24 p.
12. Shavyrin D.A. Diagnostics and surgical treatment of tumors and tumor-like bone diseases forming the knee joint in adults: dis. ... doc. med. sciences: 14.01.15 / D.A. Shavyrin. – M., 2014. – 23 p.
13. A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG / M. Delgado [et al.] // Sci Rep. – 2014. Sep 4:6407. – P.1-7.
14. A. Splice Mutation and mRNA Decay of EXT2 Provoke Hereditary Multiple Exostoses / C. Tian [et al.] // Plos One – 2014. – Vol.9. – P.1-9.
15. Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 Multiple Osteochondromas families / L. Jennes [et al.] // BMC Med Gen. – 2011. – P.1-9.
16. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1) / J. Ahn [et al.] // Nature Genet. – 1995. – Vol.11. – P. 137-143.
17. Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members / L. Zhuang [et al.] // Spr Plus. – 2016. – P.1-9.
18. Eileen M. Multiple osteochondromas in the archaeological record: a global review / M. Eileen, J. Catriona, McKenzie // J of Arch Sci. – 2010. – Vol.37. – P. 2255-2264.
19. Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses / W.H. Raskind [et al.] // Hum. Mutat. – 1998. – Vol.11. – P. 231-239.
20. Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna / P. Beighton [et al.] // Am. J. Med. Genet. - 1993. – Vol.47 – P. 843-847.
21. Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies / J. T. Hecht [et al.] // Genet. – 1997. – Vol.60. – P.80-86.
22. Hip Joint Osteochondroma: Systematic Review of the Literature and Report of Three Furher Cases / A. Makhdom [et al.] // Ard in Orth. – 2014. – P.1-10.
23. Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families / K. Medek [et al.] // Prag Med Rep. – 2017. – Vol.118. – P.87-94.
24. Identification of a novel mutation in the EXT1 gene from a patient with multiple osteochondromas by exome sequencing / G. Hong [et al.] // Mol Med Rep. – 2017. – Vol.15. – P.657-664.
25. Identification of a novel EXT1 mutation in patients with hereditary multiple exostoses by exome sequencing / H. Liu [et al.] // Onc Rep. – 2015. – P.547-552.
26. Identification of a novel frameshift mutation of the EXT2 gene in a family with multiple osteochondroma / P. Xia [et al.] // Oncology Letters. – 2016. – Vol.11. – P.105-110.
27. Krooth R. Diaphysial aclasis (multiple exostoses) on Guam / R. Krooth, M. Macklin, T. Hilbish // Am. J. Hum. Genet. – 1961. - Vol.13. – P.340-347.
28. Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas / D. Ishimaru [et al.] // BMC Gen. – 2016. – P.17-52.
29. Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses / A. Jamsheer [et al.] // J App Gen. – 2014. – P.183-188.
30. Mutation Screening for the EXT1 and EXT2 Genes in Chinese Patients with multiple Osteochondromas / Q. Kang [et al.] // Arch. of Med. Res. – 2013. - Vol.44. – P.542-548.
31. Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses / W-D. Lin [et al.] // BioMed. – 2014. – Vol.4. – P.23-28.
32. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses / C. Philippe [et al.] // Genet. – 1997. – Vol.61. – P.520-528.
33. Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas / P. Sarrion [et al.] // Sci Rep. – 2013. – Vol.3. – P.1-7.
34. Novel mutation of EXT2 identified in a large family with multiple osteochondromas / X-J. Chen [et al.] // Mol Med Rep. – 2016. – Vol.14. – P. 4687- 4691.
35. Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis) / Faiyaz-Ul-Haque [et al.] // Clin. Genet. – 2004. – Vol.66. – P.144-151.
36. New mutations of EXT1 and EXT2 genes in German patients with multiple osteochondromas / W. Heinritz [et al.] // Genet. – 2009. – Vol.73. – P.283-291.
37. Novel and Recurrent Mutations in the EXT1and EXT2 Genes in Chinese Kindreds with Multiple Osteochondromas / Y. Wu [et al.] // J Orthop Res. – 2013. Vol.9. – P.1492-1499.
38. Pacifici M. Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments / M. Pacifici // Curr Ost Rep. – 2017. – P.142-152.
39. Positional cloning of a gene involved in hereditary multiple exostoses / W. Wuyts [et al.] // Hum. Molec. Genet. – 1996. – Vol.5. – P.1547- 1557.
40. Pathogenic Gene Screening and Mutation Detection in a Chinese Family with Multiple Osteochondroma / X. Wang [et al.] // Genet. Test. And Molec. Biomark. - 2012. – Vol.16. – P.827-832.
41. Seki H. Mutation Frequencies of EXT1 and EXT2 in 43 Japanese Families With Hereditary Multiple Exostoses / H. Seki // Am J of Med Gen. – 2001. – P.59-62.
42. The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate / C. McCormick [et al.] // Nature Genet. – 1998. – Vol.19. – P.158-161.
43. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes / D. Stickens [et al.] // Nature Genet. – 1996. – Vol.14. – P.25-32.
44. Xu Y. Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas / Y. Xu, Q. Kang, Z. Zhang // Mol Med Rep. – 2017. – Vol.4. – P.5599-5605.
45. Zhang F. Exome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That Causes Multiple Osteochondromas / F. Zhang // Plos One. – 2013. – Vol.8. – P.1-5.
46. 20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis / M. Ciavarella [et al.] // Gene. – 2013. Vol.515. – P.339-348.
Review
For citations:
Yakovleva A.E., Maksimova N.R. Molecular-genetic causes of multiple exostosis chondrodysplasia. Yakut Medical Journal. 2018;(3):94-98. https://doi.org/10.25789/YMJ.2018.63.31
Views:
22
Email this article 