Pathogenic Variants Affecting Peptidyl Arginine Deiminase 3 and Its Major Substrates Underlie Central Centrifugal Cicatricial Alopecia

November 2025 in “ PubMed ”

Noy Keller Rosenthal, Ofer Sarig, Moshe Giladi, Kiril Malovitski, Rotem Rubinstein, Yoni Haitin, Jorge Larrondo, Yolanda Lenzy, Ncoza Dlova, Amy McMichael, Eli Sprecher

central centrifugal cicatricial alopecia PADI3 peptidyl arginine deiminase 3 S100A3 TCHH hair shaft integrity

TLDR Genetic variants in specific genes cause a type of hair loss.

This study investigates the genetic basis of central centrifugal cicatricial alopecia (CCCA), a common form of scarring alopecia in women of African descent, by analyzing whole-exome sequences from 75 patients. Researchers identified 9 pathogenic variants in the PADI3 gene, including 4 previously unreported missense variants that disrupt protein function. Additionally, variants in the S100A3 and TCHH genes, which encode substrates of PADI3, were found. These variants affect hair shaft integrity by reducing citrullination and altering protein expression and localization. The findings enhance understanding of CCCA's genetic mechanisms and may guide future genetic testing and therapies.

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research Pathogenic Variants Affecting Peptidyl Arginine Deiminase 3 and Its Major Substrates Underlie Central Centrifugal Cicatricial Alopecia

November 2025 in “Journal of Investigative Dermatology”

Genetic variants in specific genes cause central centrifugal cicatricial alopecia.

Variant PADI3 in Central Centrifugal Cicatricial Alopecia

research Alopecia Areata Susceptibility Variant in MHC Region Impacts Expressions of Genes Contributing to Hair Keratinization and Is Involved in Hair Loss

19 citations , July 2020 in “EBioMedicine”

A gene variant increases the risk of a type of hair loss by affecting hair protein production.