Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
Marcelo Melo, Elizabeth S. Phillippi, Thomas O. Moninger, Kya Foxx, Benjamin W. Darbro, Kelly N. Messingham, Edward A. Sander, Hatem El‐Shanti
The paper identifies a heterozygous KRT32 variant causing autosomal dominant loose anagen hair syndrome and shows it reduces binding affinity to KRT82, impairing hair shaft anchoring.
medRxiv · May 2, 2025 · PreprintGenetic & Genomic Medicine