title: Phenotype and genotype in females with POU3F4 mutations.
abstract: 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.
authors.affiliation: Service de Génétique, Hôpital Trousseau, 75571 Paris cedex 12, France. sandrine.marlin@trs.aphp.fr
authors.forename: S
authors.initials: S
authors.lastname: Marlin
authors.forename: M P
authors.initials: MP
authors.lastname: Moizard
authors.forename: A
authors.initials: A
authors.lastname: David
authors.forename: N
authors.initials: N
authors.lastname: Chaissang
authors.forename: M
authors.initials: M
authors.lastname: Raynaud
authors.forename: L
authors.initials: L
authors.lastname: Jonard
authors.forename: D
authors.initials: D
authors.lastname: Feldmann
authors.forename: N
authors.initials: N
authors.lastname: Loundon
authors.forename: F
authors.initials: F
authors.lastname: Denoyelle
authors.forename: A
authors.initials: A
authors.lastname: Toutain
mesh_terms: D000328:Adult; D001301:Audiometry, Pure-Tone; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D050809:POU Domain Factors / Q000235:genetics*; D010641:Phenotype; D014057:Tomography, X-Ray Computed
chemical_list: D050809:POU Domain Factors; C091774:POU3F4 protein, human