Prevalence and Characteristics of STRC Gene Mutations (DFNB16): A Systematic Review and Meta-Analysis.

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.