Loose Anagen Hair Associated With Woolly Hair Caused By A Heterozygous, Intronic KRT71 Variant

April 2025 in “ Genes ”

Elizabeth Phillippi, Marcelo Maia Caixeta de Melo, Kelly N. Messingham, Hatem El‐Shanti

loose anagen hair syndrome wooly hair KRT71 gene intronic variant hair structure hair anchoring

TLDR A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.

This case report describes a mother and daughter with loose anagen hair syndrome (LAHS) associated with wooly hair, linked to a heterozygous intronic variant in the KRT71 gene. The variant affects splicing, adding 12 bases to the mRNA and four amino acids to the protein, which may impact hair structure and anchoring. The study highlights the genetic basis of LAHS and its potential improvement over time, as seen in the mother whose symptoms improved after puberty. The findings suggest testing for KRT71 variants in other patients to confirm the association with LAHS and expand the known variant spectrum of KRT71 and its associated phenotypes.

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