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Hereditary multiple exostoses: Confirmation of linkage to chromosomes 8 and 11

✍ Scribed by Blanton, Susan Halloran; Hogue, Deborah; Wagner, Michael; Wells, Dan; Young, Ian D.; Hecht, Jacqueline T.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 124 KB
Volume: 62
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960315)62:2<150::aid-ajmg7>3.0.co;2-#

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✦ Synopsis

Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of cartilage capped prominences that develop from the epiphyses of the long bones. EXT is heterogeneous with three different locations currently identified on chromosomes 8,11, and 19. Recently, we identified and studied 12 large multigenerational EXT families. Linkage analyses demonstrates that 6 of these families map to 8q24 and 6 to llp. None of the families map to the chromosome 19 locus. The results sug- gest that there are two major loci, on chromosomes 8 and 11, involved in the cause of EXT. The locus on chromosome 19 remains to be confirmed. o 1996 Wiley-Liss, Inc.

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