Studysummary This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern. Our plain-language summary of this paper — not a Tressless recommendation.
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.
47 citations
,
January 2013 in “International Journal of Cosmetic Science” This review explores genetic and lifestyle factors influencing hair diversity and reports no new findings, calling attention to the potential for future discoveries in genetic and epigenetic research.
108 citations
,
October 2003 in “Journal of biological chemistry/The Journal of biological chemistry” This study documents that trichohyalin acts as a multi-functional cross-bridging protein in the inner root sheath of mouse hair follicles, enhancing mechanical strength by linking keratin filaments to the cell envelope.
124 citations
,
November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that human peptidylarginine deiminase type III is the predominant isoform in hair follicles and may modulate structural proteins during hair and hair follicle formation.
135 citations
,
October 1997 in “Journal of biological chemistry/The Journal of biological chemistry” This study suggests that trichohyalin is modified by peptidyl-arginine deiminase before being cross-linked by TGase 3, allowing the formation of rigid structures in hair follicle cells.
33 citations
,
September 1987 in “American Journal of Medical Genetics” This study documents dominant transmission and complete penetrance of uncombable hair syndrome in a family, despite the father lacking visible abnormalities.
101 citations
,
July 1985 in “Journal of the American Academy of Dermatology” In this study, oral biotin improved hair growth, strength, and combability in a child with uncombable hair syndrome, while hair in two others slowly improved without biotin.
