Literature DB >> 8317501

Genetic heterogeneity in families with hereditary multiple exostoses.

A Cook1, W Raskind, S H Blanton, R M Pauli, R G Gregg, C A Francomano, E Puffenberger, E U Conrad, G Schmale, G Schellenberg.   

Abstract

We have carried out a linkage analysis on 11 families segregating gene(s) for hereditary multiple exostoses (EXT). Four highly informative, short tandem-repeat (STR) markers that have been physically mapped to an interval surrounding the Langer-Giedion chromosomal region (8q24.11-q24.13) were used in a multipoint linkage analysis. Significant evidence for linkage of EXT with genetic heterogeneity was found. A model of heterogeneity with linkage of the disease gene to the STR markers in 70% of the families (with a 95% confidence interval of 26%-96%) produced a maximum LOD score of 8.11, with the most likely position of EXT between D8S85 and D8S199. Thus there are at least two genes that are capable of causing hereditary multiple exostoses, one in the Langer-Giedion region and one at another, unlinked location.

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Year:  1993        PMID： 8317501      PMCID： PMC1682231     

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


  15 in total

1.  HEREDITARY MULTIPLE EXOSTOSIS.

Authors:  L SOLOMON
Journal:  Am J Hum Genet       Date:  1964-09       Impact factor: 11.025

2.  Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).

Authors:  R F Ogle; P Dalzell; G Turner; D Wass; M Y Yip
Journal:  J Med Genet       Date:  1991-12       Impact factor: 6.318

3.  Hereditary multiple exostoses.

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

4.  Dinucleotide repeat polymorphisms at the D8S85, D8S87, and D8S88 loci.

Authors:  J L Weber; A E Kwitek; P E May; D Patterson; H Drabkin
Journal:  Nucleic Acids Res       Date:  1990-07-11       Impact factor: 16.971

5.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

6.  8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I.

Authors:  J P Fryns; H Van den Berghe
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

7.  Hereditary multiple exostosis: diaphyseal aclasis.

Authors:  Y Sugiura; I Sugiura; H Iwata
Journal:  Jinrui Idengaku Zasshi       Date:  1976-12

8.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

9.  Hereditary multiple exostosis. A comparative human-equine-epidemiologic study.

Authors:  N C Leone; J L Shupe; E J Gardner; E A Millar; A E Olson; E C Phillips
Journal:  J Hered       Date:  1987 May-Jun       Impact factor: 2.645

10.  The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities?

Authors:  E M Bühler; N J Malik
Journal:  Am J Med Genet       Date:  1984-09
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  43 in total

1.  The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.

Authors:  C McCormick; G Duncan; K T Goutsos; F Tufaro
Journal:  Proc Natl Acad Sci U S A       Date:  2000-01-18       Impact factor: 11.205

2.  A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses.

Authors:  Kazu Matsumoto; Fumitoshi Irie; Susan Mackem; Yu Yamaguchi
Journal:  Proc Natl Acad Sci U S A       Date:  2010-06-01       Impact factor: 11.205

3.  Genotype-phenotype correlation in hereditary multiple exostoses.

Authors:  C Francannet; A Cohen-Tanugi; M Le Merrer; A Munnich; J Bonaventure; L Legeai-Mallet
Journal:  J Med Genet       Date:  2001-07       Impact factor: 6.318

4.  Epiphyseal abnormalities, trabecular bone loss and articular chondrocyte hypertrophy develop in the long bones of postnatal Ext1-deficient mice.

Authors:  Federica Sgariglia; Maria Elena Candela; Julianne Huegel; Olena Jacenko; Eiki Koyama; Yu Yamaguchi; Maurizio Pacifici; Motomi Enomoto-Iwamoto
Journal:  Bone       Date:  2013-08-17       Impact factor: 4.398

5.  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

6.  Gains, losses, and amplifications of DNA sequences evaluated by comparative genomic hybridization in chondrosarcomas.

Authors:  M L Larramendy; M Tarkkanen; J Valle; A H Kivioja; H Ervasti; E Karaharju; T Salmivalli; I Elomaa; S Knuutila
Journal:  Am J Pathol       Date:  1997-02       Impact factor: 4.307

7.  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

8.  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

9.  The molecular and cellular basis of exostosis formation in hereditary multiple exostoses.

Authors:  Meirav Trebicz-Geffen; Dror Robinson; Zoharia Evron; Tova Glaser; Mati Fridkin; Yehuda Kollander; Israel Vlodavsky; Neta Ilan; Kit Fong Law; Kathryn S E Cheah; Danny Chan; Haim Werner; Zvi Nevo
Journal:  Int J Exp Pathol       Date:  2008-04-30       Impact factor: 1.925

10.  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
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