Phenotypic spectrum of FGF10-related disorders: a systematic review

PeerJ. 2022 Sep 14:10:e14003. doi: 10.7717/peerj.14003. eCollection 2022.


FGF10, as an FGFR2b-specific ligand, plays a crucial role during cell proliferation, multi-organ development, and tissue injury repair. The developmental importance of FGF10 has been emphasized by the identification of FGF10 abnormalities in human congenital disorders affecting different organs and systems. Single-nucleotide variants in FGF10 or FGF10-involving copy-number variant deletions have been reported in families with lacrimo-auriculo-dento-digital syndrome, aplasia of the lacrimal and salivary glands, or lethal lung developmental disorders. Abnormalities involving FGF10 have also been implicated in cleft lip and palate, myopia, or congenital heart disease. However, the exact developmental role of FGF10 and large phenotypic heterogeneity associated with FGF10 disruption remain incompletely understood. Here, we review human and animal studies and summarize the data on FGF10 mechanism of action, expression, multi-organ function, as well as its variants and their usefulness for clinicians and researchers.

Keywords: Congenital diseases; FGF10 deficiency; Pulmonary diseases.

Publication types

  • Systematic Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cleft Lip*
  • Cleft Palate*
  • Fibroblast Growth Factor 10 / genetics
  • Humans
  • Lacrimal Apparatus Diseases*
  • Lacrimal Apparatus* / abnormalities
  • Lung Diseases*
  • Syndactyly*


  • FGF10 protein, human
  • Fibroblast Growth Factor 10

Grants and funding

This work was supported by the grant awarded by the National Science Centre in Poland 2019/35/D/NZ5/02896 (Justyna A. Karolak). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.