Molecular Analysis of the Pou3F4 Gene in Patients with Clinical and Radiographic Evidence of X-Linked Mixed Deafness with Perilymphatic Gusher
| Autor: | Bykhovskaya Y, Rick A. Friedman, Wilson Df, Tu G, Lorne S. Parnes, Talbot Jm, Fischel-Ghodsian N |
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| Rok vydání: | 1997 |
| Předmět: |
Male
Pathology medicine.medical_specialty X Chromosome Hearing Loss Sensorineural Radiography Hearing Loss Conductive Molecular Sequence Data Perilymph Stapes Surgery medicine.disease_cause Polymerase Chain Reaction 03 medical and health sciences 0302 clinical medicine medicine Humans In patient Normal protein Mixed deafness 030223 otorhinolaryngology Lymphatic Diseases Gene Mutation Base Sequence business.industry General Medicine Phenotype Molecular analysis Otorhinolaryngology Ear Inner 030220 oncology & carcinogenesis POU Domain Factors Tomography X-Ray Computed business Ear Canal Transcription Factors |
| Zdroj: | Annals of Otology, Rhinology & Laryngology. 106:320-325 |
| ISSN: | 1943-572X 0003-4894 |
| DOI: | 10.1177/000348949710600411 |
| Popis: | The molecular defect in some patients with X-linked mixed deafness with perilymphatic gusher at stapes surgery (DEN3) 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. |
| Databáze: | OpenAIRE |
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