Literature DB >> 7668264

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

W Wuyts1, S Ramlakhan, W Van Hul, J T Hecht, A M van den Ouweland, W H Raskind, F C Hofstede, E Reyniers, D E Wells, B de Vries.   

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.

Entities:  

Mesh：

Year:  1995        PMID： 7668264      PMCID： PMC1801560     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  22 in total

1.  Bone growth in diaphysial aclasis.

Authors:  L SOLOMON
Journal:  J Bone Joint Surg Br       Date:  1961-11

2.  Sequence identification of 2,375 human brain genes.

Authors:  M D Adams; M Dubnick; A R Kerlavage; R Moreno; J M Kelley; T R Utterback; J W Nagle; C Fields; J C Venter
Journal:  Nature       Date:  1992-02-13       Impact factor: 49.962

3.  Isolation and mapping of 62 new RFLP markers on human chromosome 11.

Authors:  T Tokino; E Takahashi; M Mori; A Tanigami; T Glaser; J W Park; C Jones; T Hori; Y Nakamura
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

4.  Hereditary multiple exostoses.

Authors:  R C Hennekam
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

5.  Chromosomal deletion and retinoblastoma.

Authors:  A G Knudson; A T Meadows; W W Nichols; R Hill
Journal:  N Engl J Med       Date:  1976-11-11       Impact factor: 91.245

6.  Acute cervical myelopathy from hereditary multiple exostoses: case report.

Authors:  D Y Wen; T A Bergman; S J Haines
Journal:  Neurosurgery       Date:  1989-09       Impact factor: 4.654

7.  Tricho-rhino-phalangeal syndrome without exostoses, wih an interstitial deletion of 8q23.

Authors:  J Goldblatt; R D Smart
Journal:  Clin Genet       Date:  1986-05       Impact factor: 4.438

8.  Localization of the human oncogene SPI1 on chromosome 11, region p11.22.

Authors:  V C Nguyen; D Ray; M S Gross; M F de Tand; J Frézal; F Moreau-Gachelin
Journal:  Hum Genet       Date:  1990-05       Impact factor: 4.132

9.  The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature.

Authors:  L O Langer; N Krassikoff; R Laxova; M Scheer-Williams; L D Lutter; R J Gorlin; C G Jennings; D W Day
Journal:  Am J Med Genet       Date:  1984-09

10.  Human lysosomal acid phosphatase: cloning, expression and chromosomal assignment.

Authors:  R Pohlmann; C Krentler; B Schmidt; W Schröder; G Lorkowski; J Culley; G Mersmann; C Geier; A Waheed; S Gottschalk
Journal:  EMBO J       Date:  1988-08       Impact factor: 11.598
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  13 in total

Review 1.  The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins.

Authors:  G Duncan; C McCormick; F Tufaro
Journal:  J Clin Invest       Date:  2001-08       Impact factor: 14.808

2.  Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.

Authors:  O Bartsch; W Wuyts; W Van Hul; J T Hecht; P Meinecke; D Hogue; W Werner; B Zabel; G K Hinkel; C M Powell; L G Shaffer; P J Willems
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

3.  Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

Authors:  C Philippe; D E Porter; M E Emerton; D E Wells; A H Simpson; A P Monaco
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

4.  The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans.

Authors:  G A Clines; J A Ashley; S Shah; M Lovett
Journal:  Genome Res       Date:  1997-04       Impact factor: 9.043

5.  Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

Authors:  W Wuyts; W Van Hul; K De Boulle; J Hendrickx; E Bakker; F Vanhoenacker; F Mollica; H J Lüdecke; B S Sayli; U E Pazzaglia; G Mortier; B Hamel; E U Conrad; M Matsushita; W H Raskind; P J Willems
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

6.  What is the Proportion of Patients With Multiple Hereditary Exostoses Who Undergo Malignant Degeneration?

Authors:  Cory M Czajka; Matthew R DiCaprio
Journal:  Clin Orthop Relat Res       Date:  2015-01-13       Impact factor: 4.176

7.  Detection of exostosin glycosyltransferase gene mutations in patients with non-hereditary osteochondromas of the mandibular condyle.

Authors:  Qin Zhou; Chi Yang; Min-Jie Chen; Ling-Zhi Li
Journal:  Mol Clin Oncol       Date:  2016-07-08

8.  Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management.

Authors:  Liesbeth Hameetman; Judith Vmg Bovée; Antonie Hm Taminiau; Herman M Kroon; Pancras Cw Hogendoorn
Journal:  Hered Cancer Clin Pract       Date:  2004-11-15       Impact factor: 2.857

Review 9.  Of hedgehogs and hereditary bone tumors: re-examination of the pathogenesis of osteochondromas.

Authors:  Kevin B Jones; Jose A Morcuende
Journal:  Iowa Orthop J       Date:  2003

Review 10.  Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.

Authors:  T Marquardt; J Denecke
Journal:  Eur J Pediatr       Date:  2003-03-15       Impact factor: 3.183
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