Background: Mutations in the STRC (MIM 606440) gene, inducing DFNB16, are considered a major cause of mild–moderate autosomal recessive non-syndromic hearing loss (ARNSHL). We conducted a systematic review and meta-analysis to determine the global prevalence and characteristics of STRC variations, important information required for genetic counseling.

Methods: PubMed, Google Scholar, Medline, Embase, and Web of Science were searched for relevant articles published before January 2021.

Results: The pooled prevalence of DFNB16 in GJB2-negative patients with hearing loss was 4.08% (95% CI: 0.0289–0.0573), and the proportion of STRC variants in the mild–moderate hearing loss group was 14.36%. Monoallelic mutations of STRC were 4.84% (95% CI: 0.0343–0.0680) in patients with deafness (non-GJB2) and 1.36% (95% CI: 0.0025–0.0696) in people with normal hearing. The DFNB16 prevalence in genetically confirmed patients (non-GJB2) was 11.10% (95% CI: 0.0716–0.1682). Overall pooled prevalence of deafness–infertility syndrome (DIS) was 36.75% (95% CI: 0.2122–0.5563) in DFNB16. The prevalence of biallelic deletions in STRC gene mutations was 70.85% (95% CI: 0.5824–0.8213).

Conclusion: Variants in the STRC gene significantly contribute to mild–moderate hearing impairment. Moreover, biallelic deletions are a main feature of STRC mutations. Copy number variations associated with infertility should be seriously considered when investigating DFNB16.

背景：诱导 DFNB16 的 STRC (MIM 606440) 基因突变被认为是轻中度常染色体隐性非综合征性听力损失 (ARNSHL) 的主要原因。我们进行了系统回顾和荟萃分析，以确定 STRC 变异的全球流行率和特征，这是遗传咨询所需的重要信息。

方法： 在 PubMed、Google Scholar、Medline、Embase 和 Web of Science 中搜索了 2021 年 1 月之前发表的相关文章。

结果：DFNB16 在 GJB2 阴性听力损失患者中的合并患病率为 4.08%（95% CI：0.0289–0.0573），轻中度听力损失组中 STRC 变异的比例为 14.36%。STRC 的单等位基因突变在耳聋（非 GJB2）患者中为 4.84%（95% CI：0.0343-0.0680），在听力正常人群中为 1.36%（95% CI：0.0025-0.0696）。DFNB16 在基因确诊患者（非 GJB2）中的患病率为 11.10%（95% CI：0.0716–0.1682）。在 DFNB16 中，耳聋-不育综合征 (DIS) 的总体汇总患病率为 36.75%（95% CI：0.2122-0.5563）。STRC 基因突变中双等位基因缺失的发生率为 70.85%（95% CI：0.5824–0.8213）。

结论：STRC 基因的变异显着导致轻度至中度听力障碍。此外，双等位基因缺失是 STRC 突变的主要特征。在调查 DFNB16 时，应认真考虑与不孕症相关的拷贝数变异。