Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6

Monilethrix, a rare autosomal dominant hair disorder, was studied in 12 families and sporadic cases, focusing on mutations in the helix termination motif of keratin hHb6. Mutations were found in 6 families, with 4 families exhibiting known mutations (Glu413Lys and Glu413Asp) and 2 families showing a novel mutation (Glu402Lys). The study found no clear link between mutation type and disease severity, as heterozygous family members displayed varying symptoms, while homozygous individuals in a consanguineous family were more severely affected. This suggested that other genetic or environmental factors might influence the condition.