A Novel Monilethrix Mutation in Coil 2A of KRT86 Causing Autosomal Dominant Monilethrix with Incomplete Penetrance

The study investigated a large Tasmanian family with autosomal dominant monilethrix, a genetic hair shaft disorder, to identify the genetic mutation responsible. Researchers examined 120 family members and used light microscopy and gene sequencing to analyze hair samples. They discovered a novel A280V mutation in the coil 2A region of the KRT86 gene, marking the first mutation found outside the helix initiation or termination motifs. This mutation was present in both affected and unaffected individuals, indicating incomplete penetrance. The study highlighted the importance of molecular diagnosis in monilethrix and expanded the known spectrum of mutations associated with the condition.