FGF5 is a crucial regulator of hair length in humans

Proc Natl Acad Sci U S A. 2014 Jul 22;111(29):10648-53. doi: 10.1073/pnas.1402862111. Epub 2014 Jul 2.


Mechanisms that regulate the growth of eyelashes have remained obscure. We ascertained two families from Pakistan who presented with familial trichomegaly, or extreme eyelash growth. Using a combination of whole exome sequencing and homozygosity mapping, we identified distinct pathogenic mutations within fibroblast growth factor 5 (FGF5) that underlie the disorder. Subsequent sequencing of this gene in several additional trichomegaly families identified an additional mutation in FGF5. We further demonstrated that hair fibers from forearms of these patients were significantly longer than hairs from control individuals, with an increased proportion in the growth phase, anagen. Using hair follicle organ cultures, we show that FGF5 induces regression of the human hair follicle. We have identified FGF5 as a crucial regulator of hair growth in humans for the first time, to our knowledge, and uncovered a therapeutic target to selectively regulate eyelash growth.

Keywords: catagen; consanguineous families; hair cycling; next-generation sequencing.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Exons / genetics
  • Female
  • Fibroblast Growth Factor 5 / chemistry
  • Fibroblast Growth Factor 5 / genetics
  • Fibroblast Growth Factor 5 / metabolism*
  • Hair / anatomy & histology*
  • Hair / growth & development
  • Hair Follicle / metabolism
  • Homozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation, Missense / genetics
  • Pedigree
  • Phenotype
  • Protein Transport
  • Sequence Analysis, DNA


  • FGF5 protein, human
  • Fibroblast Growth Factor 5