Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

The study identified mutations in the genes PADI3, TGM3, and TCHH as the cause of Uncombable Hair Syndrome (UHS) in 11 individuals, revealing an autosomal-recessive inheritance pattern. These genes encode proteins crucial for hair shaft formation, and mutations led to structural and functional hair anomalies. The research included various analyses, such as whole-exome sequencing and cell culture experiments, demonstrating reduced enzymatic activity and protein dysfunction. The findings provided a molecular genetic basis for UHS, enhanced the understanding of hair physiology, and suggested potential targets for therapeutic intervention.