Autosomal Recessive Hypotrichosis With Woolly Hair Caused By A Mutation In The Keratin 25 Gene Expressed In Hair Follicles

The study identified a novel missense mutation in the KRT25 gene, c.712G>T (p.Val238Leu), as the cause of autosomal-recessive hypotrichosis with woolly hair in individuals from the Volga-Ural region of Russia. This mutation, found in a highly conserved position of type I keratin KRT25, disrupted keratin intermediate filament formation, affecting hair structure and density. The research involved 119 affected individuals and 300 phenotypically normal individuals, revealing several heterozygous carriers but no homozygous individuals among the controls. The findings suggested a founder effect in these isolated populations and expanded the understanding of genetic causes behind hair growth disorders, particularly those involving keratin genes.