Genetic heterogeneity in families with hereditary multiple exostoses

April Cook, Wendy Raskind, Susan Halloran Blanton, Richard M. Pauli, Ronald G. Gregg, Claire A. Francomano, Eric Puffenberger, Ernest U. Conrad, Gregory Schmale, Gerard Schellenberg, Ellen Wijsman, Jacqueline T. Hecht, Dan Wells, Michael J. Wagner

Research output: Contribution to journalArticlepeer-review

178 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)71-79
Number of pages9
JournalAmerican journal of human genetics
Issue number1
StatePublished - Jul 1993
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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