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New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.

This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

This study found that the p.E402K mutation in the KRT86 gene is a hotspot in Chinese patients with monilethrix, and treatment with 5% topical minoxidil significantly improved hair density and quality.

This study found a weak association between Cyp11a1 gene variation and polycystic ovary syndrome, with higher di-hydro-testosterone levels observed in individuals with the syndrome and anovulatory PCOS compared to controls.