Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture

The study identified a heterozygous mutation, p.Asn148Lys, in the KRT74 gene as the cause of autosomal-dominant woolly hair (ADWH) in a Pakistani family. This mutation disrupted keratin intermediate filament formation, likely in a dominant-negative manner, leading to the tightly curled hair characteristic of ADWH. The research highlighted the role of KRT74, an inner root sheath-specific epithelial keratin, in hair texture and suggested that similar genes might influence hair texture variations across species. The findings underscored the importance of IRS-specific epithelial keratin genes in hair disorders and opened avenues for understanding genetic determinants of hair texture.