A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities

In 2012, researchers identified a novel missense mutation in the HR gene (c.974G/A, p.Gly325Asp) in a 68-year-old Hungarian woman with an unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 (MUHH1), which included alopecia universalis and limb deformities of all four extremities. This mutation was found to be heterozygous in the affected patient, while her clinically unaffected son and unrelated controls carried the wild type sequence. The study suggested that while the association between HR gene mutations and alopecia is well-established, further research is needed to determine if this specific mutation or another one in the non-coding region of the HR gene or neighboring genes is responsible for the limb deformities observed. The study involved direct sequencing of the coding regions of the HR gene from the patient, her son, and unrelated controls.