Phenotype and genotype in females with POU3F4 mutations.
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.
Marlin
S
S
Service de Génétique, Hôpital Trousseau, 75571 Paris cedex 12, France. sandrine.marlin@trs.aphp.fr
Moizard
M P
MP
David
A
A
Chaissang
N
N
Raynaud
M
M
Jonard
L
L
Feldmann
D
D
Loundon
N
N
Denoyelle
F
F
Toutain
A
A
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
D050809:POU Domain Factors; C091774:POU3F4 protein, human