A Gene for Monilethrix Is Closely Linked to the Type II Keratin Gene Cluster at 12q13

The study investigated monilethrix, a hereditary disorder affecting hair and nails, characterized by hair fragility and alopecia. Researchers examined two families with autosomal dominant monilethrix and found that the disorder was closely linked to the type II keratin gene cluster on chromosome 12q, rather than the type I keratin gene cluster on chromosome 17q. The study achieved a maximum lod score of 12.27 for D12S96 at theta=0.0, marking the first mapping of a primary human hair disorder and providing evidence of a defect in the 'hard' keratins associated with hair and nail disease.