Quang phổ đột biến của EXT1 và EXT2 ở bệnh nhân Ả Rập Xê Út mắc bệnh di truyền nhiều xương gồ

Schmale GA, Conrad EU 3rd, Raskind WH. The natural history of hereditary multiple exostoses. J Bone Joint Surg Am. 1994;76(7):986–92. Pacifici M. Hereditary multiple exostoses: new insights into pathogenesis, clinical complications, and potential treatments. Curr Osteoporos Rep. 2017;15(3):142–52. Czajka CM, DiCaprio MR. What is the proportion of patients with multiple hereditary exostoses who undergo malignant degeneration? Clin Orthop Relat Res. 2015;473(7):2355–61. Bovée JV. Multiple osteochondromas. Orphanet J Rare Dis. 2008;3:3. Jennes I, Pedrini E, Zuntini M, Mordenti M, Balkassmi S, Asteggiano CG, Casey B, Bakker B, Sangiorgi L, Wuyts W. Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). Hum Mutat. 2009;30(12):1620–7. Wuyts W, Van Hul W. Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum Mutat. 2000;15(3):220–7. Szuhai K, Jennes I, de Jong D, Bovée JV, Wiweger M, Wuyts W, Hogendoorn PC. Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients. Hum Mutat. 2011;32(2):E2036-2049. Waaijer CJ, Winter MG, Reijnders CM, de Jong D, John Ham S, Bovée JV, Szuhai K. Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas. Genes Chromosomes Cancer. 2013;52(4):431–6. Mordenti M, Ferrari E, Pedrini E, Fabbri N, Campanacci L, Muselli M, Sangiorgi L. Validation of a new multiple osteochondromas classification through Switching Neural Networks. Am J Med Genet A. 2013;161A(3):556–60. Cebeci AN, Zou M, BinEssa HA, Alzahrani AS, Al-Rijjal RA, Al-Enezi AF, Al-Mohanna FA, Cavalier E, Meyer BF, Shi Y: Mutation of SGK3, a novel regulator of renal phosphate transport, causes autosomal dominant hypophosphatemic rickets. J Clin Endocrinol Metab 2020, 105(6). Sarrión P, Sangorrin A, Urreizti R, Delgado A, Artuch R, Martorell L, Armstrong J, Anton J, Torner F, Vilaseca MA, et al. Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. Sci Rep. 2013;3:1346. Raef H, Zou M, Baitei EY, Al-Rijjal RA, Kaya N, Al-Hamed M, Monies D, Abu-Dheim NN, Al-Hindi H, Al-Ghamdi MH, et al. A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype. Clin Endocrinol (Oxf). 2011;75(6):791–800. https://doi.org/10.1111/j.1365-2265.2011.04134.x. Nadanaka S, Kitagawa H. Heparan sulphate biosynthesis and disease. J Biochem. 2008;144(1):7–14. Pacifici M. The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses. Matrix Biol. 2018;71–72:28–39. Lind T, Tufaro F, McCormick C, Lindahl U, Lidholt K. The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. J Biol Chem. 1998;273(41):26265–8. Nagarajan A, Malvi P, Wajapeyee N. Heparan sulfate and heparan sulfate proteoglycans in cancer initiation and progression. Front Endocrinol (Lausanne). 2018;9:483. Huegel J, Sgariglia F, Enomoto-Iwamoto M, Koyama E, Dormans JP, Pacifici M. Heparan sulfate in skeletal development, growth, and pathology: the case of hereditary multiple exostoses. Dev Dyn. 2013;242(9):1021–32. Farach-Carson MC, Hecht JT, Carson DD. Heparan sulfate proteoglycans: key players in cartilage biology. Crit Rev Eukaryot Gene Expr. 2005;15(1):29–48. Busse M, Feta A, Presto J, Wilén M, Grønning M, Kjellén L, Kusche-Gullberg M. Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation. J Biol Chem. 2007;282(45):32802–10. McCormick C, Duncan G, Goutsos KT, Tufaro F. The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci USA. 2000;97(2):668–73. Senay C, Lind T, Muguruma K, Tone Y, Kitagawa H, Sugahara K, Lidholt K, Lindahl U, Kusche-Gullberg M. The EXT1/EXT2 tumor suppressors: catalytic activities and role in heparan sulfate biosynthesis. EMBO Rep. 2000;1(3):282–6. Anower EKMF, Matsumoto K, Habuchi H, Morita H, Yokochi T, Shimizu K, Kimata K. Glycosaminoglycans in the blood of hereditary multiple exostoses patients: half reduction of heparan sulfate to chondroitin sulfate ratio and the possible diagnostic application. Glycobiology. 2013;23(7):865–76. https://doi.org/10.1093/glycob/cwt1024 (Epub 2013 Mar 1020). Reijnders CM, Waaijer CJ, Hamilton A, Buddingh EP, Dijkstra SP, Ham J, Bakker E, Szuhai K, Karperien M, Hogendoorn PC, et al. No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas. Am J Pathol. 2010;177(4):1946–57. Hameetman L, Szuhai K, Yavas A, Knijnenburg J, van Duin M, van Dekken H, Taminiau AH, Cleton-Jansen AM, Bovee JV, Hogendoorn PC. The role of EXT1 in nonhereditary osteochondroma: identification of homozygous deletions. J Natl Cancer Inst. 2007;99(5):396–406. Jones KB, Piombo V, Searby C, Kurriger G, Yang B, Grabellus F, Roughley PJ, Morcuende JA, Buckwalter JA, Capecchi MR, et al. A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes. Proc Natl Acad Sci USA. 2010;107(5):2054–9. https://doi.org/10.1073/pnas.0910875107 (Epub 0910872009 Dec 0910875122). Matsumoto Y, Matsumoto K, Irie F, Fukushi J, Stallcup WB, Yamaguchi Y. Conditional ablation of the heparan sulfate-synthesizing enzyme Ext1 leads to dysregulation of bone morphogenic protein signaling and severe skeletal defects. J Biol Chem. 2010;285(25):19227–34. https://doi.org/10.11074/jbc.M19110.105338 (Epub 102010 Apr 105319). Sgariglia F, Candela ME, Huegel J, Jacenko O, Koyama E, Yamaguchi Y, Pacifici M, Enomoto-Iwamoto M. Epiphyseal abnormalities, trabecular bone loss and articular chondrocyte hypertrophy develop in the long bones of postnatal Ext1-deficient mice. Bone. 2013;57(1):220–31. https://doi.org/10.1016/j.bone.2013.1008.1012 (Epub 2013 Aug 1017). Zuntini M, Pedrini E, Parra A, Sgariglia F, Gentile FV, Pandolfi M, Alberghini M, Sangiorgi L. Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation. Oncogene. 2010;29(26):3827–34. de Andrea CE, Reijnders CM, Kroon HM, de Jong D, Hogendoorn PC, Szuhai K, Bovée JV. Secondary peripheral chondrosarcoma evolving from osteochondroma as a result of outgrowth of cells with functional EXT. Oncogene. 2012;31(9):1095–104. Cousminer DL, Arkader A, Voight BF, Pacifici M, Grant SFA. Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses. Bone. 2016;92:196–200. Ishimaru D, Gotoh M, Takayama S, Kosaki R, Matsumoto Y, Narimatsu H, Sato T, Kimata K, Akiyama H, Shimizu K et al: Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. BMC Genet 2016, 17:52. doi:https://doi.org/10.1186/s12863-12016-10359-12864. Sarrion P, Sangorrin A, Urreizti R, Delgado A, Artuch R, Martorell L, Armstrong J, Anton J, Torner F, Vilaseca MA et al. Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. Sci Rep 2013, 3:1346. doi:https://doi.org/10.1038/srep01346. Ciavarella M, Coco M, Baorda F, Stanziale P, Chetta M, Bisceglia L, Palumbo P, Bengala M, Raiteri P, Silengo M, et al. 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. Gene. 2013;515(2):339–48. Jamsheer A, Socha M, Sowińska-Seidler A, Telega K, Trzeciak T, Latos-Bieleńska A. Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. J Appl Genet. 2014;55(2):183–8. Philippe C, Porter DE, Emerton ME, Wells DE, Simpson AH, Monaco AP. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. Am J Hum Genet. 1997;61(3):520–8. Kang QL, Xu J, Zhang Z, He JW, Fu WZ, Zhang ZL. Mutation screening for the EXT1 and EXT2 genes in Chinese patients with multiple osteochondromas. Arch Med Res. 2013;44(7):542–8. Ahn J, Ludecke HJ, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet. 1995;11(2):137–43. Li Y, Wang J, Wang Z, Tang J, Yu T. A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients. BMC Med Genet. 2017;18(1):126. Dobson-Stone C, Cox RD, Lonie L, Southam L, Fraser M, Wise C, Bernier F, Hodgson S, Porter DE, Simpson AH, et al. Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses. Eur J Hum Genet. 2000;8(1):24–32. Jennes I, Entius MM, Van Hul E, Parra A, Sangiorgi L, Wuyts W. Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas. J Mol Diagn. 2008;10(1):85–92. Jennes I, de Jong D, Mees K, Hogendoorn PC, Szuhai K, Wuyts W: Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families. BMC Med Genet 2011, 12:85 doi:https://doi.org/10.1186/1471-2350-1112-1185.