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Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family

✍ Scribed by J. Lamartine; D. Laoudj; C. Blanchet-Bardon; Z. Kibar; P. Soularue; V. Ridoux; L. Dubertret; G.A. Rouleau; G. Waksman

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 618 KB
Volume: 142
Category: Article
ISSN: 0007-0963
DOI: 10.1046/j.1365-2133.2000.03292.x

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✦ Synopsis

Hidrotic ectodermal dysplasia (HED) or Clouston syndrome is a rare autosomal dominant disorder characterized by nail dystrophy, alopecia and palmoplantar hyperkeratosis, which maps to chromosome 13q11-q12.1. We confirmed linkage of HED to this region in a large French family. To define the critical region for HED, detailed haplotypes were constructed with new pericentromeric polymorphic markers. A recombination event in the family indicates that the HED locus maps centromeric to D13S1832. Our French family does not share a common haplotype with other pedigrees previously published (particularly French-Canadian), indicating that the mutations in these families are likely to be of different origin.

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The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region

✍ Radhakrishna, Uppala; Blouin, Jean-Louis; Mehenni, Hamid; Mehta, Timir Y.; Sheth 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 53 KB 👁 2 views

Hidrotic ectodermal dysplasia (HED), Clouston syndrome (MIM No. 129500), is an autosomal dominant disorder affecting the skin and its derivatives. It is characterized by alopecia, dysplastic nails in hands and feet, and hyperkeratosis of the palms and soles. We have studied a large Indian pedigree (