Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with Evidence for multiple independent mutations

Todd D. Taylor, Susan Hayflick, Wendy McKinnon, Alan E. Guttmacher, Alain Hovnanian, Mike Litt, Jonathan (Jon) Zonana

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Abstract

Clouston syndrome (hidrotic ectodermal dysplasia) is an autosomal dominant disorder characterized by the triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. Recently, linkage of a Clouston syndrome locus to chromosome 13q11-q12.1 was reported in eight families of French-Canadian descent. We have confirmed linkage to this region in four additional families: two of French-Canadian descent, one of Scottish-Irish descent, and one French family. Multipoint linkage analysis gave a lod score of 5.09 at marker D13S175. The two families of French-Canadian descent share haplotypes with those reported by Kibar et al (1996), indicating a common founder. The French and Scottish-Irish families do not demonstrate the common haplotype, indicating that the mutations in these populations are most likely of different origin.

Original languageEnglish (US)
Pages (from-to)83-85
Number of pages3
JournalJournal of Investigative Dermatology
Volume111
Issue number1
DOIs
Publication statusPublished - 1998

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Keywords

  • Gene mapping
  • Hyperkeratosis
  • Microsatellite markers

ASJC Scopus subject areas

  • Dermatology

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