Koohiyan Mahbobeh
Cancer Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Int J Pediatr Otorhinolaryngol. 2020 Feb;129:109756. doi: 10.1016/j.ijporl.2019.109756. Epub 2019 Oct 31.
Hereditary hearing loss (HL) as a common disorder is genetically heterogeneous, which poses a challenge for clinical and molecular diagnosis. Next-generation sequencing (NGS) technologies have proven to be the best solution for mutational screening, even though it is not always conclusive. Here, we have reviewed the results of previously published data on HL mutations identified with NGS, as well as the efficiency of this technology in detecting HL in Iran.
A systematic literature review of the PubMed, Google Scholar, Web of Science, and Science Direct databases were conducted for articles published before May 2019. The primary data of these studies, including the number of samples, mutation frequency and so on were extracted.
Seventy-five articles were reviewed, and 10 met our inclusion criteria. Totally 432 unrelated families were included and analyzed for the type and prevalence of the gene mutations and pathogenic variants were discovered in 34 non-syndromic HL (NSHL) genes. Altogether 237 different genetic mutations were detected. However, p. Gln1576Stop in PCDH15 was the most common mutation accounting for 1% of the populations studied. NGS platforms have yielded only a 47.1% molecular diagnosis rate for NSHL etiologies in the Iranian population, which is significantly lower than that identified in the other part of the Middle East.
The results showed that NGS platforms can greatly assist and enhance HL diagnosis and improve molecular diagnostic outcome. However, researchers were unable to provide 53% of their Iranian cohort with a molecular diagnosis for their HL. It seems that many rare genes are responsible for the majority of HL in the Iranian cohort. Future explorative investigations utilizing NGS technologies, such as WES, into the Iranian population are warranted.
遗传性听力损失（HL）作为一种常见疾病，具有遗传异质性，这给临床和分子诊断带来了挑战。尽管下一代测序（NGS）技术并不总是能得出结论，但已被证明是突变筛查的最佳解决方案。在此，我们回顾了先前发表的关于用NGS鉴定的HL突变数据结果，以及该技术在伊朗检测HL的效率。
对PubMed、谷歌学术、科学网和科学Direct数据库进行系统的文献综述，以查找2019年5月之前发表的文章。提取这些研究的主要数据，包括样本数量、突变频率等。
共审查了75篇文章，其中10篇符合我们的纳入标准。总共纳入并分析了432个无亲缘关系的家庭，以确定基因突变的类型和患病率，并在34个非综合征性HL（NSHL）基因中发现了致病变异。总共检测到237种不同的基因突变。然而，PCDH15基因中的p.Gln1576Stop是最常见的突变，占所研究人群的1%。NGS平台在伊朗人群中对NSHL病因的分子诊断率仅为47.1%，明显低于中东其他地区。
结果表明，NGS平台可以极大地辅助和加强HL诊断，并改善分子诊断结果。然而，研究人员无法为53%的伊朗队列提供HL的分子诊断。似乎许多罕见基因是伊朗队列中大多数HL的病因。有必要对伊朗人群开展利用NGS技术（如全外显子测序）的未来探索性研究。
