A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3)
A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3)
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DOI：
10.1097/00005537-199810000-00022
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发表时间：
1998-10-01
期刊：
影响因子：
2.6
通讯作者：
Kodera, K
中科院分区：
文献类型：
--
作者：
Hagiwara, H;Tamagawa, Y;Kodera, K
目的：x连锁混合性耳聋患者表现为镫骨切除术后淋巴周围喷口（DFN3）的分子缺陷归因于POU3F4基因的突变，本研究旨在阐明该基因的等位变异。研究设计：这是一项针对一个日本DFNS家族的遗传研究。方法：对聚合酶链反应（PCR）产物进行单链构象多态性（SSCP）分析。使用荧光双脱氧终止法和测序仪对显示SSCP变异的患者和携带者的PCR产物进行直接测序。结果：PCR产物测序显示，在核苷酸601至606处有6个碱基缺失（TTCAAA），导致POU3F4蛋白中有两个氨基酸缺失（苯基丙氨酸和赖氨酸在氨基酸残基201和202），该缺失与先前描述的无义突变位点相邻。结论：先前未描述位置的微缺失解释了一些临床上重要的POU3F4突变。
Objective: The molecular defect in patients with X-linked mixed deafness showing a perilymphatic gusher at stapedectomy (DFN3) has been attributed to mutations in the POU3F4 gene, This study aimed to clarify an allelic variant of this gene. Study Design: This was a genetic study of a single Japanese family with DFNS. Methods: Products of a polymerase chain reaction (PCR) were subjected to single strand conformation polymorphism (SSCP) analysis. Direct sequencing of PCR products from patients and carriers showing SSCP variants was performed using the fluorescent dideoxy termination method and a sequencer. Results: Sequencing of the PCR product revealed a 6-base deletion (TTCAAA) at nucleotides 601 to 606, resulting in a two amino-acid deletion in the POU3F4 protein, (phenylalanine and lysine at amino acid residues 201 and 202), The deletion was adjacent to the site of a nonsense mutation previously described. Conclusion: Microdeletions at a previously undescribed location account for some clinically important POU3F4 mutations.