Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children
Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children
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DOI：
10.1016/j.ijporl.2010.11.001
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发表时间：
2011-02-01
影响因子：
1.5
通讯作者：
Ikeda, Katsuhisa
中科院分区：
文献类型：
--
作者：
Hayashi, Chieri;Funayama, Manabu;Ikeda, Katsuhisa
目的：GJB2（间隙连接蛋白，β 2，26 kDa：连接蛋白26）是一种间隙连接蛋白基因，与许多常染色体隐性遗传性非综合征性耳聋病例有关。GJB2的点突变和缺失突变是各种族群体中非综合征性耳聋的最常见原因。为了阐明日本儿童严重非综合征性耳聋与GJB 2突变的关系，我们对GJB 2进行了基因检测。方法：我们采用PCR和直接测序对126名接受人工耳蜗植入术的先天性耳聋儿童进行了GJB 2突变筛查。结果：我们检测到10个突变，其中包括GJB 2中两个未报告的突变（p.R32S和p.P225L）。我们确定了最高频率的突变（c.235delC：44.8%）和其他无义或截短突变，如在以前的研究。然而，在我们的研究中，p.R143W，这是一个错义突变，也可能显示出重要的相关性与severe death.Conclusion：我们的研究结果表明，在GJB 2和GJB 6缺失突变的频率不同的队列。因此，我们的报告是一个重要的研究GJB2在日本儿童的深度非综合征性耳聋。(c)2010爱思唯尔爱尔兰有限公司版权所有。
Objective: GJB2 (gap junction protein, beta 2,26 kDa: connexin 26) is a gap junction protein gene that has been implicated in many cases of autosomal recessive non-syndromic deafness. Point and deletion mutations in GJB2 are the most frequent cause of non-syndromic deafness across racial groups. To clarify the relation between profound non-syndromic deafness and GJB2 mutation in Japanese children, we performed genetic testing for GJB2.Methods: We conducted mutation screening employing PCR and direct sequencing for GJB2 in 126 children who had undergone cochlear implantation with congenital deafness.Results: We detected 10 mutations, including two unreported mutations (p.R32S and p.P225L) in GJB2. We identified the highest-frequency mutation (c.235delC: 44.8%) and other nonsense or truncating mutations, as in previous studies. However, in our research, p.R143W, which is one of the missense mutations, may also show an important correlation with severe deafness.Conclusion: Our results suggest that the frequencies of mutations in GJB2 and GJB6 deletions differ among cohorts. Thus, our report is an important study of GJB2 in Japanese children with profound non-syndromic deafness. (c) 2010 Elsevier Ireland Ltd. All rights reserved.