A Missense Variant Within the Helix Termination Motif of KRT71 Causes Autosomal Dominant Woolly Hair/Hypotrichosis in a Chinese Family

Abstract

Previous studies in dogs, cats, mice, and rats have established that KRT71 polymorphisms cause curly/wavy coat phenotypes. In humans, variants in the helix initiation motif of KRT71 are associated with woolly hair, a rare hereditary hair shaft disorder. Here, we report a novel heterozygous missense variant (c.1295A>G:p.Tyr432Cys, NM_033448.3) within the helix termination motif of KRT71 segregating with autosomal dominant woolly hair (ADWH) in a Chinese family. Sanger sequencing confirmed complete co-segregation of this variant with the disease phenotype. This finding extends the genotypic and phenotypic spectrum of ADWH.