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

Research output: Contribution to journalArticle

17 Citations (Scopus)

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
StatePublished - 1998

Fingerprint

Ectodermal Dysplasia
Nails
Chromosomes
Haplotypes
Mutation
Lod Score
Population

Keywords

  • Gene mapping
  • Hyperkeratosis
  • Microsatellite markers

ASJC Scopus subject areas

  • Dermatology

Cite this

Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with Evidence for multiple independent mutations. / Taylor, Todd D.; Hayflick, Susan; McKinnon, Wendy; Guttmacher, Alan E.; Hovnanian, Alain; Litt, Mike; Zonana, Jonathan (Jon).

In: Journal of Investigative Dermatology, Vol. 111, No. 1, 1998, p. 83-85.

Research output: Contribution to journalArticle

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AU - Hovnanian, Alain

AU - Litt, Mike

AU - Zonana, Jonathan (Jon)

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