Friedman R A, Bykhovskaya Y, Tu G, Talbot J M, Wilson D F, Parnes L S, Fischel-Ghodsian N
House Ear Clinic, Steven Spielberg Pediatric Research Center, Los Angeles, California, USA.
Ann Otol Rhinol Laryngol. 1997 Apr;106(4):320-5. doi: 10.1177/000348949710600411.
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.
一些在镫骨手术时伴有外淋巴瘘的X连锁混合型耳聋患者（DFN3）的分子缺陷，最近被认为是由POU3F4基因突变所致。在本论文中，我们描述了对5例有DFN3临床及影像学证据患者的POU3F4基因的分子分析。在所分析的5例患者中，2例发现有新的突变，而另外3例的蛋白质编码序列完全正常。5例有外淋巴瘘的X连锁混合型耳聋特征性临床病史及影像学异常的患者中，有3例显示POU3F4基因序列正常，这一事实支持了并非所有具有该特征性表型的患者都涉及POU3F4基因的可能性。
