Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.
Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.
复制标题
听力筛查与目标基因组测试相结合可提高聋哑儿童的病因诊断率
DOI：
10.1155/2021/6151973
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发表时间：
2021
影响因子：
3.1
通讯作者：
Sun Y
中科院分区：
文献类型：
--
作者：
Xie L;Qiu Y;Jin Y;Xu K;Bai X;Liu XZ;Wang XH;Chen S;Sun Y
基因检测是探索先天性听力损失病因的金标准。本研究共纳入137例先天性耳聋患者，采用127个基因板检测或159个变异体检测描述其分子流行病学特征。63名聋哑儿童接受了127项基因面板检测，74名患者接受了159项变异检测。通过使用127个基因面板测试，鉴定出更多的突变基因和变体。最常见的突变基因是GJB2、SLC26A4、MYO15A、CDH23和OTOF。通过对接受127个基因面板检测的患者进行分析，我们发现51名聋儿携带了159个变异检测中未包括的变异。因此，如果仅使用159变异检测，大量患者会被误诊。这项研究强调了127基因面板测试的优势，并建议进行更广泛的基因测试以确定先天性听力损失的遗传病因。
Genetic testing is the gold standard for exploring the etiology of congenital hearing loss. Here, we enrolled 137 Chinese patients with congenital hearing loss to describe the molecular epidemiology by using 127 gene panel testing or 159 variant testing. Sixty-three deaf children received 127 gene panel testing, while seventy-four patients received 159 variant testing. By use of 127 gene panel testing, more mutant genes and variants were identified. The most frequent mutant genes were GJB2, SLC26A4, MYO15A, CDH23, and OTOF. By analyzing the patients who received 127 gene panel testing, we found that 51 deaf children carried variants which were not included in 159 variant testing. Therefore, a large number of patients would be misdiagnosed if only 159 variant testing is used. This study highlights the advantage of 127 gene panel testing, and it suggests that broader genetic testing should be done to identify the genetic etiology of congenital hearing loss.
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影响因子：
2.6
作者：
Brodie, Kara D.;Moore, Anthony T.;Chan, Dylan K.
通讯作者：
Chan, Dylan K.
影响因子：
3.5
作者：
García-García G;Berzal-Serrano A;García-Díaz P;Villanova-Aparisi R;Juárez-Rodríguez S;de Paula-Vernetta C;Cavallé-Garrido L;Jaijo T;Armengot-Carceller M;Millán JM;Aller E
通讯作者：
Aller E
影响因子：
5.3
作者：
Sloan-Heggen CM;Bierer AO;Shearer AE;Kolbe DL;Nishimura CJ;Frees KL;Ephraim SS;Shibata SB;Booth KT;Campbell CA;Ranum PT;Weaver AE;Black-Ziegelbein EA;Wang D;Azaiez H;Smith RJH
通讯作者：
Smith RJH
DOI：
10.1038/nrdp.2016.94
发表时间：
2017-01-12
期刊：
Nature reviews. Disease primers
影响因子：
--
作者：
Korver AM;Smith RJ;Van Camp G;Schleiss MR;Bitner-Glindzicz MA;Lustig LR;Usami SI;Boudewyns AN
通讯作者：
Boudewyns AN
DOI：
10.3390/medicina56090471
发表时间：
2020-09-14
期刊：
Medicina (Kaunas, Lithuania)
影响因子：
--
作者：
Božanić Urbančič N;Battelino S;Tesovnik T;Trebušak Podkrajšek K
通讯作者：
Trebušak Podkrajšek K