Am J Hum Genet. 1995 Aug;57(2):382-7.

Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11.

Wuyts W, Ramlakhan S, Van Hul W, Hecht JT, van den Ouweland AM, Raskind WH, Hofstede FC, Reyniers E, Wells DE, de Vries B, et al.

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Department of Medical Genetics, University of Antwerp, Belgium.

Abstract

Hereditary multiple exostoses (EXT) is an autosomal dominant skeletal disorder characterized by the formation of multiple exostoses on the long bones. EXT is genetically heterogeneous, with at least three loci involved: one (EXT1) in the Langer-Giedion region on 8q23-q24, a second (EXT2) in the pericentromeric region of chromosome 11, and a third (EXT3) on chromosome 19p. In this study, linkage analysis in seven extended EXT families, all linked to the EXT2 locus, refined the localization of the EXT2 gene to a 3-cM region flanked by D11S1355 and D11S1361/D11S554. This implies that the EXT2 gene is located at the short arm of chromosome 11, in band 11p11-p12. The refined localization of EXT2 excludes a number of putative candidate genes located in the pericentromeric region of chromosome 11 and facilitates the process of isolating the EXT2 gene.

PMID:: 7668264; [PubMed - indexed for MEDLINE]
PMCID:: PMC1801560

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Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. [Am J Hum Genet. 1998]
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, Mollica F, Lüdecke HJ, Sayli BS, Pazzaglia UE, et al. Am J Hum Genet. 1998 Feb; 62(2):346-54.
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. [Hum Mol Genet. 1994]
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.
Wu YQ, Heutink P, de Vries BB, Sandkuijl LA, van den Ouweland AM, Niermeijer MF, Galjaard H, Reyniers E, Willems PJ, Halley DJ. Hum Mol Genet. 1994 Jan; 3(1):167-71.
Positional cloning of a gene involved in hereditary multiple exostoses. [Hum Mol Genet. 1996]
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Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul EV, De Boulle K, de Vries BB, Hendrickx J, Herrygers I, et al. Hum Mol Genet. 1996 Oct; 5(10):1547-57.
Review [From gene to disease; hereditary multiple exostoses]. [Ned Tijdschr Geneeskd. 2002]
Review [From gene to disease; hereditary multiple exostoses].
Wuyts W, Bovée JV, Hogendoorn PC. Ned Tijdschr Geneeskd. 2002 Jan 26; 146(4):162-4.
Review Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. [Hum Mutat. 2000]
Review Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
Wuyts W, Van Hul W. Hum Mutat. 2000; 15(3):220-7.

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Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11.
Am J Hum Genet. 1995 Aug ;57(2):382-7.

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