Successful Cochlear Implantation in Prelingual Profound Deafness Resulting From the Common 233delC Mutation of the GJB2 Gene in the Japanese
Successful Cochlear Implantation in Prelingual Profound Deafness Resulting From the Common 233delC Mutation of the GJB2 Gene in the Japanese
复制标题
日本人因 GJB2 基因常见 233delC 突变导致的舌前重度耳聋成功植入人工耳蜗
DOI：
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发表时间：
2002
期刊：
影响因子：
--
通讯作者：
T. Kubo
中科院分区：
文献类型：
--
作者：
N. Matsushiro;K. Doi;Y. Fuse;K. Nagai;Koichi Yamamoto;T. Iwaki;T. Kawashima;Ayako Sawada;H. Hibino;T. Kubo
目的最近，我们在日本常染色体隐性遗传性非综合征性耳聋家系中发现了三种新的GJB 2基因突变。1 11条突变染色体中有7条（63.6%）含有233 delC等位基因，表明233 delC突变是日本人群中GJB 2基因最常见的突变。在认识到人工耳蜗植入（CI）对语前聋儿童的益处后，我们已经有了一些语前儿童CI患者。由于携带纯合233 delC突变的儿童显示双侧语前深度耳聋，他们可以参加大坂大学医学研究生院的CI项目。本研究的目的是：1）分析我们的15例非综合征性耳聋原因不明的语前儿童CI患者中GJB 2突变的发生情况; 2）评估这些GJB 2相关耳聋受试者的CI听觉功能和术后言语感知。
Objectives Recently, we identified three novel mutations of the GJB2 gene in Japanese families with autosomal‐recessive non‐syndromic deafness. 1 Seven of 11 mutated chromosomes (63.6%) contained a 233delC allele, suggesting that the 233delC mutation is the most common mutation of the GJB2 gene in the Japanese population. After it was recognized that cochlear implantation (CI) is of benefit to children with prelingual deafness, we have had a number of prelingual pediatric CI patients. Because children carrying the homozygous 233delC mutation show bilateral prelingual profound deafness, they could be enrolled in the CI program at Osaka University Graduate School of Medicine. The purposes of this study were 1) to analyze the occurrence of the GJB2 mutations in our 15 prelingual pediatric CI patients in whom the cause of non‐syndromic deafness was unknown, and 2) to evaluate the auditory function and postoperative speech perception with CI of those GJB2‐related deaf subjects.
DOI：
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发表时间：
1991
期刊：
The American journal of otology
影响因子：
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作者：
A. Robbins;J. Renshaw;S. W. Berry
通讯作者：
A. Robbins;J. Renshaw;S. W. Berry
影响因子：
3.5
作者：
Zelante, L;Gasparini, P;Fortina, P
通讯作者：
Fortina, P