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 investigated 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 aimed to map the disease locus using DNA polymorphisms from 23 affected and 8 unaffected individuals. They confirmed linkage to the 13q11-12.1 region with a maximum lod score of 3.27 and a multipoint lod score of 5.04, suggesting the gene for Clouston syndrome in this family is likely the same as that in French-Canadian families. This finding could help narrow the critical region for the gene and aid in its cloning.