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

Journal of Molecular Diagnostics

Volumn 10, Issue 1, 2008, Pages 85-92

  Jennes, Ivy ^a   Entius, Mark M ^b   Van Hul, Els ^a   Parra, Alessandro ^c   Sangiorgi, Luca ^c   Wuyts, Wim ^a,d  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^b MRC HOLLAND   (Netherlands)

^c RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^d Department of Medical Genetics ^*  (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ANALYTICAL EQUIPMENT; ANALYZER; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC ACCURACY; DNA DETERMINATION; EXT1 GENE; EXT2 GENE; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; GENE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE PROBE; GENE TRANSLOCATION; GENOTYPE; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; RELIABILITY; SEQUENCE ANALYSIS;

EID: 38749092638     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2008.070086     Document Type: Article

References (36)

1. Solomon L: Hereditary multiple exostosis. J Bone Joint Surg Br 1963, 45:292-304
2. Hennekam RCM: Hereditary multiple exostoses. J Med Genet 1991, 28:262-266
3. Schmale GA, Conrad EU, Raskind WH: The natural history of hereditary multiple exostoses. J Bone Joint Surg Br 1994, 76:986-992
4. Wicklund CL, Pauli RM, Johnston D, Hecht JT: Natural history study of hereditary multiple exostoses. Am J Med Genet 1995, 55:43-46
5. Ahn J, Lüdecke H, 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, 11:137-143
6. Stickens D, Clines G, Burbee D, Ramos P, Thomas S, Hogue D, Hecht JT, Lovett M, Evans GA: The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet 1996, 14:25-32
7. Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul E, De Boulle K, de Vries BBA, Hendrickx J, Herrygers I, Bossuyt P, Balemans W, Fransen E, Vits L, Coucke P, Nowak NJ, Shows TB, Mallet L, van den Ouweland AMW, McGaughran J, Halley DJJ, Willems PJ: Positional cloning of a gene involved in hereditary multiple exostoses. Hum Mol Genet 1996, 5:1547-1557
8. McCormick C, Leduc Y, Martindale D, Mattison K, Esford LE, Dyer AP, Tufaro F: The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. Nat Genet 1998, 19:158-161
9. 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, 273:26265-26268
10. Hecht JT, Hogue D, Strong LC, Hansen MF, Blanton SH, Wagner M: Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8. Am J Hum Genet 1995, 56:1125-1131
11. Bridge JA, Nelson M, Orndal C, Bhatia P, Neff JR: Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas. Cancer 1998, 82:1657-1663
12. Bovée J, Cleton-Jansen A, Wuyts W, Caethoven G, Taminiau A, Bakker E, Van Hul W, Cornelisse P, Hogendoorn P: EXT mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. Am J Hum Genet 1999, 65:689-698
13. Feely MG, Boehm AK, Bridge RS, Krallman PA, Neff JR, Nelson M, Bridge JA: Cytogenetic and molecular cytogenetic evidence of recurrent 8q24.1 loss in osteochondroma. Cancer Genet Cytogenet 2002, 137:102-107
14. Raskind WH, Conrad EU, Chansky H, Matsushita M: Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. Am J Hum Genet 1995, 56:1132-1139
15. Lassmann S, Weis R, Makowiec F, Roth J, Danciu M, Hopt U, Werner M: Array CGH identifies distinct DNA copy number profiles of oncogenes and tumor suppressor genes in chromosomal- and microsatellite-unstable sporadic colorectal carcinomas. J Mol Med 2007, 85:289-300
16. 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, 99:396-406
17. Wuyts W, Radersma R, Storm K, Vits L: An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. Clin Genet 2005, 68:542-547
18. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002, 30:e57
19. White SJ, Vink GR, Kriek M, Wuyts W, Schouten J, Bakker B, Breuning MH, den Dunnen JT: Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat 2004, 24:86-92
20. Pedrini E, De Luca A, Valente EM, Maini V, Capponcelli S, Mordenti M, Mingarelli R, Sangiorgi L, Dallapiccola B: Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas. Hum Mutat 2005, 26:280
21. Lonie L, Porter DE, Fraser M, Cole T, Wise C, Yates L, Wakeling E, Blair E, Morava E, Monaco AP, Ragoussis J: Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. Hum Mutat 2006, 27:1160
22. Vink GR, White SJ, Gabelic S, Hogendoorn PCW, Breuning MH, Bakker E: Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. Eur J Hum Genet 2005, 13:470-474
23. Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, Mollica F, Lndecke HJ, Sayli BS, Pazzaglia UE, Mortier G, Hamel B, Conrad EU, Matsushita M, Raskind WH, Willems PJ: Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. Am J Hum Genet 1998, 62:346-354
24. Wuyts W, Van Hul W: Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum Mutat 2000, 15:220-227
25. Francannet C, Cohen-Tanugi A, Le MM, Munnich A, Bonaventure J, Legeai-Mallet L: Genotype-phenotype correlation in hereditary multiple exostoses. J Med Genet 2001, 38:430-434
26. Chung UI, Schipani E, McMahon AP, Kronenberg HM: Indian hedgehog couples chondrogenesis to osteogenesis in endochondral bone development. J Clin Invest 2001, 107:295-304
27. Shi YR, Wu JY, Hsu YA, Lee CC, Tsai CH, Tsai FJ: Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan. Genet Test 2002, 6:237-243
28. Philippe C, Porter DE, Emerton ME, Wells DE, Hamish A, Simpson RW, Monaco AP: Mutation screening of EXT1 and EXT2 genes in patients with hereditary multiple exostoses. Am J Hum Genet 1997, 61:520-528
29. Xu L, Xia J, Jiang H, Zhou J, Li H, Wang D, Pan Q, Long Z, Fan C, Deng HX: Mutation analysis of hereditary multiple exostoses in the Chinese. Hum Genet 1999, 105:45-50
30. Raskind WH, Conrad EU, Matsushita M, Wijsman EM, Wells DE, Chapman N, Sandell LJ, Wagner M, Houck J: Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. Hum Mutat 1998, 11:231-239
31. Porter DE, Lonie L, Fraser M, Dobson-Stone C, Porter JR, Monaco AP, Simpson AH: Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study. J Bone Joint Surg Br 2004, 86:1041-1046
32. Signori E, Massi E, Matera MG, Poscente M, Gravina C, Falcone G, Rosa MA, Rinaldi M, Wuyts W, Seripa D, Dallapiccola B, Fazio VM: A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. Genes Chromosom Cancer 2007, 46:470-477
33. Hecht JT, Hogue D, Wang Y, Blanton SH, Wagner M, Strong LC, Raskind W, Hansen MF, Wells D: Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. Am J Hum Genet 1997, 60:80-86
34. Wells DE, Hill A, Lin X, Ahn J, Brown N, Wagner MJ: Identification of novel mutations in the human EXT1 tumor suppressor gene. Hum Genet 1997, 99:612-615
35. Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ: Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis and mental retardation, caused by deletions on the short arm of chromosome 11. Am J Hum Genet 1996, 58:734-742
36. Wuyts W, Di Gennaro G, Bianco F, Wauters J, Morocutti C, Pierelli F, Bossuyt P, Van Hul W, Casali C: Molecular and clinical examination of an Italian DEFECT 11 family. Eur J Hum Genet 1999, 7:579-584