The Importance of Early Genetic Diagnostics of Hearing Loss in Children.
The Importance of Early Genetic Diagnostics of Hearing Loss in Children.
复制标题
DOI：
10.3390/medicina56090471
复制
发表时间：
2020-09-14
期刊：
影响因子：
--
通讯作者：
Trebušak Podkrajšek K
中科院分区：
文献类型：
--
作者：
Božanić Urbančič N;Battelino S;Tesovnik T;Trebušak Podkrajšek K
听力损失是最常见的感觉障碍之一。它具有严重的医学和社会后果，因此，本世纪初引入了普遍的新生儿听力筛查。受影响的患者可能会有单独的听力损失(非症状性听力损失)或其他器官也会受到影响(症状性听力损失)。在大约60%的病例中，先天性听力损失有遗传病因，致病变异可以改变听力途径的任何组成部分。基因检测通常是通过测序进行的。Sanger测序能够根据听力损失患者的临床表现和患病率，严格预先选择有限数量的基因进行分析。相比之下，下一代测序允许对与听力损失、外显子组或整个基因组相关的众多基因进行广泛分析。遗传病因的确定是可能的，这为家庭遗传咨询奠定了基础。此外，它能够识别可能需要转诊进行专科护理的合并症，允许早期治疗，帮助确定人工耳蜗植入的候选者，适当的厌恶/保护性管理，并为开发新的治疗方案奠定基础。
Hearing loss is one of the most common sensory deficits. It carries severe medical and social consequences, and therefore, universal newborn hearing screening was introduced at the beginning of this century. Affected patients can have hearing loss as a solitary deficit (non-syndromic hearing loss) or have other organs affected as well (syndromic hearing loss). In around 60% of cases, congenital hearing loss has a genetic etiology, where disease-causing variants can change any component of the hearing pathway. Genetic testing is usually performed by sequencing. Sanger sequencing enables analysis of the limited number of genes strictly preselected according to the clinical presentation and the prevalence among the hearing loss patients. In contrast, next-generation sequencing allows broad analysis of the numerous genes related to hearing loss, exome, or the whole genome. Identification of the genetic etiology is possible, and it makes the foundation for the genetic counselling in the family. Furthermore, it enables the identification of the comorbidities that may need a referral for specialty care, allows early treatment, helps with identification of candidates for cochlear implant, appropriate aversive/protective management, and is the foundation for the development of novel therapeutic options.
登录
查看更多内容
DOI：
10.1016/j.ijporl.2014.08.013
发表时间：
2014-10-01
影响因子：
1.5
作者：
Gong, Wu-Xian;Gong, Ruo-Zhen;Zhao, Bin
通讯作者：
Zhao, Bin
影响因子：
1.7
作者：
Cohen, Melinda;Phillips, John A., III
通讯作者：
Phillips, John A., III
影响因子：
2.6
作者：
Battelino, Saba;Klancar, Gasper;Podkrajsek, Katarina Trebusak
通讯作者：
Podkrajsek, Katarina Trebusak
影响因子：
1.7
作者：
Chang, Kay W.
通讯作者：
Chang, Kay W.
影响因子：
9.8
作者：
Azaiez H;Booth KT;Ephraim SS;Crone B;Black-Ziegelbein EA;Marini RJ;Shearer AE;Sloan-Heggen CM;Kolbe D;Casavant T;Schnieders MJ;Nishimura C;Braun T;Smith RJH
通讯作者：
Smith RJH