title: Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher.
abstract: The molecular defect in some patients with X-linked mixed deafness with perilymphatic gusher at stapes surgery (DFN3) was recently attributed to mutations in the POU3F4 gene. In this manuscript we describe the molecular analysis of the POU3F4 gene in 5 patients with clinical and radiographic evidence of DFN3. Novel mutations were found in 2 of the 5 patients analyzed, while 3 had an entirely normal protein coding sequence. The fact that 3 of the 5 patients with clinical histories and radiographic abnormalities characteristic of X-linked mixed deafness with perilymphatic gusher displayed normal POU3F4 gene sequences supports the possibility that not all patients with the characteristic phenotype have involvement of the POU3F4 gene.
authors.affiliation: House Ear Clinic, Steven Spielberg Pediatric Research Center, Los Angeles, California, USA.
authors.forename: R A
authors.initials: RA
authors.lastname: Friedman
authors.forename: Y
authors.initials: Y
authors.lastname: Bykhovskaya
authors.forename: G
authors.initials: G
authors.lastname: Tu
authors.forename: J M
authors.initials: JM
authors.lastname: Talbot
authors.forename: D F
authors.initials: DF
authors.lastname: Wilson
authors.forename: L S
authors.initials: LS
authors.lastname: Parnes
authors.forename: N
authors.initials: N
authors.lastname: Fischel-Ghodsian
mesh_terms: D001483:Base Sequence; D004424:Ear Canal / Q000000981:diagnostic imaging; D007758:Ear, Inner / Q000002:abnormalities; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008206:Lymphatic Diseases / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D050809:POU Domain Factors; D010498:Perilymph; D016133:Polymerase Chain Reaction; D013201:Stapes Surgery; D014057:Tomography, X-Ray Computed; D014157:Transcription Factors / Q000235:genetics*; D014960:X Chromosome
chemical_list: D050809:POU Domain Factors; C091774:POU3F4 protein, human; D014157:Transcription Factors