Reply

In this response, the authors addressed criticisms regarding their findings on the Thr1022Ala substitution in the human hairless gene, which they argued was a non-pathogenic polymorphism rather than a disease-causing mutation for autosomal recessive universal congenital alopecia. They supported their conclusion with evidence from allele frequency studies in a control population of 616 individuals, showing that the Thr1022Ala variant was present in healthy individuals, and conservation analysis across species, which indicated that position 970, not 1022, was conserved and likely critical for gene function. The authors also discussed the potential misclassification of related phenotypes and emphasized the need for further phenotype-genotype correlation studies.