Evaluations of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exoxteses

Human Mutation

Volumn 11, Issue 3, 1998, Pages 231-239

  Raskind, Wendy H ^a   Conrad III, Ernest U ^a   Matsushita, Mark ^a   Wijsman, Ellen M ^a   Wells, Dan E ^b   Chapman, Nicola ^a   Sandell, Linda J ^a,c,d   Wagner, Michael ^e   Houck, John ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b University of Houston   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d VETERANS AFFAIRS MEDICAL CENTER   (United States)

^e GLAXOSMITHKLINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CODON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE LOCUS; GENETIC HETEROGENEITY; GUAM; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE ANALYSIS; PREVALENCE; PRIORITY JOURNAL; CHROMOSOME 11; CHROMOSOME 19; CHROMOSOME 8; GENETIC LINKAGE; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

EXOSTOSIN 1; EXOSTOSIN-1; N ACETYLGLUCOSAMINYLTRANSFERASE; PROTEIN;

CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 19; CHROMOSOMES, HUMAN, PAIR 8; DNA MUTATIONAL ANALYSIS; EXOSTOSES, MULTIPLE HEREDITARY; FEMALE; GENETIC HETEROGENEITY; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; PEDIGREE; PROTEINS;

EID: 0031594163     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:3<231::AID-HUMU8>3.0.CO;2-K     Document Type: Article

References (33)

1. Ahn J, Ludecke H-J, Lindow S, Horton WA, Lee B, Wagner MJ, Horstemke B, Wells DE (1995) Cloning of the putative tumor suppressor gene for hereditary multiple exostoses (EXT1). Nature Genet 11:137-143.
2. Baudet AL, Antonarakis S, Beutler E, Cotton RGH, Desnick RJ, Kazazian HH, McAlpine PJ, McKusick VA, Motulsky AG, Scriver CR, Shows TB, Tsui L-C, Valle D (1997) Ad Hoc Committee on Mutation Nomenclature - Update on nomenclature for human gene mutations. Hum Mutation 8.197-202.
3. Blanton SH, Hogue D, Wells DE, Wagner MJ, Hecht JT (1996) Linkage study of hereditary multiple exostosis. Am J Med Genet 62:150-159
4. CEPH-Genethon Genetic Map Data (database online). Available from Internet: 〈http://gc.bcm.tmc.edu:8088/bio/access_gdata.html〉.
5. Clines GA, Ashky JA, Shah S, Lovett M (1997) The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans. Genome Res 7(4).359-367.
6. Cook A, Raskmd W, Blanton SH, Pauli R, Gregg RG, Francomano C, Puffenberger E, Conrad EU, Schmale G, Schellenberg G, Wijsman E, Hecht JT, Wells D, Wagner MJ (1993) Genetic heterogeneity in families with hereditary multiple exostoses. Am J Hum Genet 53:71-79.
7. Dausett J, Cann H, Cohen D, Lathrop M, Lalouel JM, White R (1990) Centre D'Etude du Polymorphisme Humain [CEPH]: Collaborative genetic mapping of the human genome. Genomics 6:575-577.
8. GDB™ Genome Data Base [database online] Baltimore (Maryland, USA). Johns Hopkins University, 1990. Updated daily, cited 4 Dec 1995; GDB Data Type: Map GDB ID: G00-270-702. Available from Internet: URL:http://gdbwww.gdb.org/gdb/browser/ docs/topq.html
9. GDB™ Genome Data Base [database online]. Baltimore (Maryland, USA). Johns Hopkins University, 1990. Updated daily, cited March 1996, GDB Data Type. Map. Accession IDs. gdb: 1216145, 1217160, and 1219194 Cited 11 Oct 1996; Accession ID. gdb:4264177. Available from Internet: URL.http:// gdbwww.gdb.org/
10. Hecht JT, Hogue D, Wang Y, Blanton SH, Wagner M, Strong LC, Raskind W, Hansen MF, Wells D (1997) Hereditary multiple exostoses: Mutational studies of familial EXT1 cases and EXT associated malignancies. Am J Hum Genet 60:80-86.
11. Hodge SE, Anderson CE, Neiswanger K, Sparkes RS, Rimoin DL (1983) The search for heterogeneity in insulin-dependent diabetes mellitus (IDDM): Linkage studies, two-locus models, and genetic heterogeneity. Am J Hum Genet 35:1139-1155.
12. James MR, Richard CW, Schott JJ, Yousry C, Clark K, Bell J, Terwilliger JD, Hazan J, Dubay C, Vignal A, Agrapart M, Imai T, Nakamura Y, Polymeropoulos M, Weissenbach J, Cox DR, Lathrop GM (1994) A radiation hybrid map of 506 STS markers spanning human chromosome 11. Nature Genet 8:70-76.
13. Krooth RS, Macklin MT, Kubish TF (1961) Diaphyseal aclasis (multiple exostoses) on Guam. J Hum Genet 13:340-347.
14. Legeai-Mallet L, Margaritte-Jeannin P, Lemdant M, Le Merrer M, Plauchu H, Maroteaux P, Munnich A, Clerget-Darpoux F (1997) An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses. Hum Genet 99:298-302.
15. Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, Toutain A, Achard F, Munnich A, Maroteaux P (1994) A gene for hereditary multiple exostoses maps to chromosome 19p Hum Molec Genet 3:717-722.
16. Leone NC, Shupe JL, Gardner EJ, Millar EA, Olson AE, Phillips EC (1987) Hereditary multiple exostosis: A comparative humanequine-epidemiologic study. J Hered 78.171-177.
17. Lin X, Wells D (1997) Isolation of the mouse cDNA homologous to the human EXT1 gene responsible for hereditary multiple exostosis. DNA Sequence (in press).
18. Lohmann DR, Brandt B, Hopping W, Passarge E, Horsthemke B (1994) Spectrum of small length germline mutations in the RB1 gene. Hum Molec Genet 3:2187-2193.
19. Luckert-Wicklund C, Pauli RM, Johnston D, Hecht JT (1995) Natural history study of hereditary multiple exostoses. Am J Hum Genet 55:43-46.
20. O'Connell JR, Weeks DE (1995) The Vitesse algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nat Genet 11.402-408.
21. Ott J (1974) Estimation of the recombination fraction in human pedigrees: Efficient computation of the likelihood for human linkage studies. Am J Hum Genet 26.588-597.
22. Ott J (1991) Analysis of Human Genetic Linkage. (1991) Baltimore: Johns Hopkins Press, 16 pp.
23. Raskind WH, Conrad EU, 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.
24. Schellenberg GD, Bird TD, Wijsman EM, Orr HT, Anderson L, Nemens E, White JA, Bonneycastle L, Weber JL, Alonso ME, Potter H, Heston LL, Martin GM (1992) Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science 258:668-671.
25. Schmale G, Conrad EU, Raskind WH (1994) The natural history of hereditary multiple exostoses. J Bone Joint Surg 76-A: 986-992.
26. Shattuck-Eidens D, McClure M, Simard J, Labrie F, Narod S, Couch F, Hoskins K, Weber B, Castilla L, Erdos M, Brody L, Friedman L, Ostermeyer E, Szabo C, King M-C, Jhanwar S, Offit K, Norton L, Gileweski T, Lubin M, Osbourne M, Black D, Boyd M, Steel M, Ingles S, Halle R, Lindblom A, Olsson H, Borg A, Bishop DT, Solomon E, Radice P, Spatti G, Gayther S, Ponder B, Warren W, Stratton M, Liu Q, Fujimora F, Lewis C, Skolnick MH, Goldgar DE (1995) A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. JAMA 273.535-541.
27. Solomon L (1963) Hereditary multiple exostosis. J Bone Joint Surg 45B.292-304.
28. Stickens D, Clines G, Burbee D, Ramos P, Thomas S, Hogue D, Hecht JT, Lovett M, Evans GA (1996a) The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nature Genet 14:25-32.
29. Stickens D, Burbee D, Ramos P, Evans GA (1996b) Identification of a novel gene family responsible for hereditary multiple exostoses (EXT). Am J Hum Genet 59:A6, abs 19.
30. Voutsinas S, Wynne-Davies R (1983): The infrequency of malignant disease in diaphyseal aclasis and neurofibromatosis. J Med Genet 20.345-349.
31. Wells DE, Hill A, Lin X, Ahn J, Brown N, and Wagner MJ (1997) Identification of novel mutations in the human EXT1 tumor suppressor gene. Human Genetics 99:612-615.
32. Wu YQ, Heutink P, deVries BBA, Sandkuijl LA, van den Ouweland AMW, Niermeijer MF, Galjaard H, Reyniers E, Willems PJ, Halley DJJ (1994) Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. Hum Molec Genet 3:167-171.
33. 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 E Nowak NJ, Shows TB, Mallet L, van den Ouweland AMW, McGaughran J, Halley DJJ, Willems PJ (1996) Positional cloning of a gene involved in hereditary multiple exostoses. Hum Molec Genet 5:1547-1557.