Meyahealth
HomeGeneticsGeneFGF3 gene
Back to Gene
FGF3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

FGF3 gene

The FGF3 gene encodes a protein that acts as a signaling molecule, playing a vital role in the development of the inner ears, outer ears, and teeth.

Normal Function

The FGF3 gene provides instructions for making a protein called fibroblast growth factor 3 (FGF3). This protein is part of a family of proteins called fibroblast growth factors that are involved in important processes such as cell division, regulation of cell growth and maturation, formation of blood vessels, wound healing, and development before birth. By attaching to another protein known as a receptor, FGF3 triggers a cascade of chemical reactions inside the cell that signal the cell to undergo certain changes, such as maturing to take on specialized functions. During development before birth, the signals triggered by the FGF3 protein stimulate cells to form the structures that make up the inner ears. The FGF3 protein is also involved in the development of many other organs and structures, including the outer ears and teeth.

Health Conditions Related to Genetic Changes

Congenital deafness with labyrinthine aplasia, microtia, and microdontia

Mutations in the FGF3 gene cause a condition known as congenital deafness with labyrinthine aplasia, microtia, and microdontia (also known as LAMM syndrome). The features of this condition include deafness caused by a lack of inner ear structures (labyrinthine aplasia), small outer ears (microtia), and small teeth (microdontia). The gene mutations involved in LAMM syndrome change single protein building blocks (amino acids) in the FGF3 protein or lead to an abnormally short protein. The altered protein likely has reduced or absent function, making it unable to stimulate signaling within cells. The loss of FGF3 function impairs development of the ears and teeth, which leads to the characteristic features of LAMM syndrome.

Other Names for This Gene

  • FGF-3
  • FGF3_HUMAN
  • HBGF-3
  • heparin-binding growth factor 3
  • INT-2 proto-oncogene protein
  • INT2
  • murine mammary tumor virus integration site 2, mouse
  • oncogene INT2
  • proto-oncogene Int-2
  • V-INT2 murine mammary tumor virus integration site oncogene homolog

Frequently Asked Questions

If a pathogenic FGF3 variant has been identified in a family, prenatal diagnosis can be performed via chorionic villus sampling (CVS) or amniocentesis, followed by targeted DNA analysis. Non‑invasive prenatal testing (NIPT) is not yet validated for single‑gene disorders like FGF3. Couples may also consider pre‑implantation genetic testing (PGT) during in‑vitro fertilization to select embryos without the mutation. Genetic counseling is recommended to discuss risks, testing methods, and reproductive options.
Mutations in FGF3 disrupt signaling needed for inner ear development, leading to labyrinthine aplasia (absence of inner ear structures) and resulting in congenital deafness. Diagnosis involves a combination of audiologic testing (pure tone audiometry, otoacoustic emissions), imaging studies such as high‑resolution CT or MRI of the temporal bone to visualize inner ear anatomy, and genetic sequencing of the FGF3 gene to identify pathogenic variants.
While the structural ear defects are permanent, hearing can be partially restored with hearing aids or cochlear implants, depending on residual cochlear function. Early fitting of hearing devices, coupled with auditory training and speech therapy, can significantly improve speech perception and language development. Consultation with an otolaryngologist and audiologist is essential to determine the best intervention.
Children with FGF3 mutations often have microdontia (small teeth) or missing teeth. Regular dental evaluations starting in early childhood are important. Preventive care includes fluoride treatments, sealants, and early orthodontic assessment. If missing teeth are present, options such as dental implants, bridges, or removable prosthetics can be considered once growth is complete.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ