Phenotype and genotype in females with POU3F4 mutations

Clin Genet. 2009 Dec;76(6):558-63. doi: 10.1111/j.1399-0004.2009.01215.x.


X-linked deafness is a rare cause of hereditary isolated hearing impairment estimated as at least 1% or 2% of the non-syndromic hearing loss. To date, four loci for DFN have been identified and only one gene, POU3F4 responsible for DFN3, has been cloned. In males, DFN3 is characterized by a progressive deafness associated with perilymphatic gusher at stapes surgery and with a characteristic inner ear malformation. The phenotype of eight independent females carrying POU3F4 anomalies is defined, and a late-onset hearing loss is found in three patients. Only one has an inner ear malformation. No genotype/phenotype correlation is identified.

MeSH terms

  • Adult
  • Audiometry, Pure-Tone
  • Female
  • Genotype
  • Heterozygote
  • Humans
  • Middle Aged
  • Mutation / genetics*
  • POU Domain Factors / genetics*
  • Phenotype
  • Tomography, X-Ray Computed


  • POU Domain Factors
  • POU3F4 protein, human