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 language | English (US) |
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Pages (from-to) | 83-85 |
Number of pages | 3 |
Journal | Journal of Investigative Dermatology |
Volume | 111 |
Issue number | 1 |
DOIs | |
State | Published - 1998 |
Keywords
- Gene mapping
- Hyperkeratosis
- Microsatellite markers
ASJC Scopus subject areas
- Biochemistry
- Molecular Biology
- Dermatology
- Cell Biology