MOLECULAR ANALYSIS OF THE POU3F4 GENE IN PATIENTS WITH CLINICAL AND RADIOGRAPHIC EVIDENCE OF X-LINKED MIXED DEAFNESS WITH PERILYMPHATIC GUSHER

The molecular defect in some patients with X-linked mixed deafness wit h perilymphatic gusher at stapes surgery (DFN3) was recently attribute d 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 seq uence. The fact that 3 of the 5 patients with clinical histories and r adiographic abnormalities characteristic of X-linked mixed deafness wi th perilymphatic gusher displayed normal POU3F4 gene sequences support s the possibility that not all patients with the characteristic phenot ype have involvement of the POU3F4 gene.