A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients

The study examined mutations in the 2B domain of the human hair basic keratin 6 (hHb6) gene in 13 unrelated families with monilethrix, a hereditary hair disorder. A G to A transversion mutation at position 413, resulting in a lysine for glutamic acid substitution (E413K), was found in 5 cases, indicating it as a common and independently arising mutation. However, no mutations were detected in the 2B domain in 8 other cases, suggesting genetic heterogeneity. The study underscored the significance of type II keratin defects, particularly in hHb6, in monilethrix, while also noting the potential involvement of other keratin genes and factors like sex hormones in the disorder's varied phenotype. Further research was deemed necessary to better understand and manage the condition.