The Gene for Autosomal Dominant Hidrotic Ectodermal Dysplasia (Clouston Syndrome) in a Large Indian Family Maps to the 13q11-q12.1 Pericentromeric Region

The study focused on a large Indian family with 127 members, including 41 affected by Clouston syndrome, an autosomal dominant disorder characterized by alopecia, dysplastic nails, and hyperkeratosis. Researchers used DNA polymorphisms for linkage analysis and confirmed linkage to the 13q11-12.1 region with a maximum lod score of 3.27, suggesting the gene responsible for Clouston syndrome in this family is likely the same as that identified in French-Canadian families. The findings indicated that combining data from all families linked to this region could help narrow down the critical area for positional cloning of the gene.