Prague Med. Rep. 2017, 118, 87-94
https://doi.org/10.14712/23362936.2017.8
Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families
References
1. , J. V. (2008) Multiple osteochondromas. Orphanet J. Rare Dis. 13, 3.
<https://doi.org/10.1186/1750-1172-3-3>
<PubMed>
2. , C., Cohen-Tanugi, A., Le Merrer, M., Munnich, A., Bonaventure, J., Legeai-Mallet, L. (2001) Genotype-phenotype correlation in hereditary multiple exostoses. J. Med. Genet. 38, 430–434.
<https://doi.org/10.1136/jmg.38.7.430>
<PubMed>
3. , J. T., Hogue, D., Strong, L. C., Hansen, M. F., Blanton, S. H., Wagner, M. (1995) Hereditary multiple exostoses and chondrosarcoma: Linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes 2 and 8. Am. J. Hum. Genet. 56, 1125–1131.
4. , W., Hüffmeier, U., Strenge, S., Miterski, B., Zweier, C., Leinung, S., Bohring, A., Mitulla, B., Peters, U., Froster, U. G. (2009) New mutations of EXT1 and EXT2 genes in German patients with multiple osteochondromas. Ann. Hum. Genet. 73, 283–291.
<https://doi.org/10.1111/j.1469-1809.2009.00508.x>
5. , T., Cabalzar, J. (2015) Congenital disorders of glycosylation: a concise chart of glycocalyx dysfunction. Trends Biochem. Sci. 40, 377–384.
<https://doi.org/10.1016/j.tibs.2015.03.002>
6. , D., Gotoh, M., Takayama, S., Kosaki, R., Matsumoto, Y., Narimatsu, H., Sato, T., Kimata, K., Akiyama, H., Shimizu, K., Matsumoto, K. (2016) Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. BMC Genet. 17, 52.
<https://doi.org/10.1186/s12863-016-0359-4>
<PubMed>
7. , A., Socha, M., Sowińska-Seidler, A., Telega, K., Trzeciak, T., Latos-Bieleńska, A. (2014) Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. J. Appl. Genet. 55, 183–188.
<https://doi.org/10.1007/s13353-014-0195-z>
<PubMed>
8. , D., Schweitzer, M. E., Eschelman, D. J. (1997) Symptomatic osteochondromas: imaging features. AJR Am. J. Roentgenol. 168, 1507–1512.
<https://doi.org/10.2214/ajr.168.6.9168715>
9. , H. K., Fitzgerald, L., Cambell, N., Lyburn, I. D., Munk, P. L., Buckley, O., Torreggiani, W. C. (2013) Multimodality imaging features of hereditary multiple exostoses. Br. J. Radiol. 86, 20130398.
<https://doi.org/10.1259/bjr.20130398>
<PubMed>
10. , P. E. (1978) Multiple cartilaginous exostoses and neoplastic degeneration: review of the literature (author’s transl.). Z. Orthop. Ihre Grenzgeb. 116, 369–378. (in German).
11. OMIM – Online Mendelian Inheritance in Man (2017) An Online Catalog of Human Genes and Genetic Disorders. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore. Available at: https://omim.org/.
12. , M. M., Tuijnenburg, P., Hempel, M., van Vlies, N., Ren, Z., Ferdinandusse, S., Jansen, M. H., Santer, R., Johannsen, J., Bacchelli, C., Alders, M., Li, R., Davies, R., Dupuis, L., Cale, C. M., Wanders, R. J., Pals, S. T., Ocaka, L., James, C., Müller, I., Lehmberg, K., Strom, T., Engels, H., Williams, H. J., Beales, P., Roepman, R., Dias, P., Brunner, H. G., Cobben, J. M., Hall, C., Hartley, T., Le Quesne Stabej, P., Mendoza-Londono, R., Davies, E. G., de Sousa, S. B., Lessel, D., Arts, H. H., Kuijpers, T. W. (2017) Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome. Am. J. Hum. Genet. 100, 281–296.
<https://doi.org/10.1016/j.ajhg.2017.01.013>
<PubMed>
13. , W. H., Conrad, E. U., Chansky, H., Matsushita, M. (1995) Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. Am. J. Hum. Genet. 56, 1132–1139.
14. , H., Kubota, T., Ikegawa, S., Haga, N., Fujioka, F., Ohzeki, S., Wakui, K., Yoshikawa, H., Takaoka, K., Fukushima, Y. (2001) Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. Am. J. Med. Genet. 99, 59–62.
<https://doi.org/10.1002/1096-8628(20010215)99:1<59::AID-AJMG1115>3.0.CO;2-Z>
15. Silverman, F. N. (1985) Caffey’s Pediatric X-ray Diagnosis: An Integrated Imaging Approach, Vol. 1. Year Book Medical Publishers, Chicago.
16. , G., Zhou, J., Xia, J., Deng, H., Xu, L., Ruan, Q. (1999) Identification of mutations in the human EXT1 and EXT2 genes. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 16, 208–210. (in Chinese).
17. , J. R., Dormans, J. P. (2005) Manifestations of hereditary multiple exostoses. J. Am. Acad. Orthop. Surg. 13, 110–120.
<https://doi.org/10.5435/00124635-200503000-00004>
18. , F. M., Van Hul, W., Wuyts, W., Willems, P. J., De Schepper, A. M. (2001) Hereditary multiple exostoses: from genetics to clinical syndrome and complications. Eur. J. Radiol. 40, 208–217.
<https://doi.org/10.1016/S0720-048X(01)00401-6>
19. , S., Yamazaki, Y., Brauer, P. M., van Rooijen, E., Hayashida, A., Slavotinek, A., Sun Kuehn, H., Di Rocco, M., Rivolta, C., Bortolomai, I., Du, L., Felgentreff, K., Ott de Bruin, L., Hayashida, K., Freedman, G., Marcovecchio, G. E., Capuder, K., Rath, P., Luche, N., Hagedorn, E. J., Buoncompagni, A., Royer-Bertrand, B., Giliani, S., Poliani, P. L., Imberti, L., Dobbs, K., Poulain, F. E., Martini, A., Manis, J., Linhardt, R. J., Bosticardo, M., Rosenzweig, S. D., Lee, H., Puck, J. M., Zúñiga-Pflücker, J. C., Zon, L., Park, P. W., Superti- Furga, A., Notarangelo, L. D. (2017) EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. J. Exp. Med. 214, 623–637.
20. , W., Van Hul, W., De Boulle, K., Hendrickx, J., Bakker, E., Vanhoenacker, F., Mollica, F., Ludecke, H. J., Sayli, B. S., Pazzaglia, U. E., Mortier, G., Hamel, B., Conrad, E. U., Matsushita, M., Raskind, W. H., Willems, P. J. (1998) Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. Am. J. Hum. Genet. 62, 346–354.
<https://doi.org/10.1086/301726>
<PubMed>
