Pitfalls of Mapping a Large Turkish Consanguineous Family With Vertical Monilethrix Inheritance

The study focused on a large Turkish consanguineous family with 11 members affected by monilethrix, a rare autosomal dominant condition characterized by hair fragility and patchy dystrophic alopecia. Researchers used haplotype analysis with three Simple Tandem Repeat markers and sequenced the KRT86 gene, identifying an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as the cause of the condition in this family. Monilethrix is caused by mutations in type II hair cortex keratins, and the study highlighted the challenges in mapping genetic mutations in consanguineous families.