{"doi":"10.3389/fgene.2021.707845","title":"Prevalence and Characteristics of STRC Gene Mutations (DFNB16): A Systematic Review and Meta-Analysis","abstract":"<jats:p><jats:bold>Background:</jats:bold> 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.</jats:p><jats:p><jats:bold>Methods:</jats:bold> PubMed, Google Scholar, Medline, Embase, and Web of Science were searched for relevant articles published before January 2021.</jats:p><jats:p><jats:bold>Results:</jats:bold> 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).</jats:p><jats:p><jats:bold>Conclusion:</jats:bold> 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.</jats:p>","journal":"Frontiers in Genetics","year":2021,"id":637178,"datarank":0.49983067652628066,"base_score":3.332204510175204,"endowment":3.332204510175204,"self_citation_contribution":0.49983067652628066,"citation_network_contribution":0.0,"self_endowment_contribution":0.49983067652628066,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":27,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1654266,"name":"Dejun Zhang","orcid":null,"position":1,"is_corresponding":false},{"id":1654268,"name":"Yingyuan Guo","orcid":null,"position":2,"is_corresponding":false},{"id":1654270,"name":"Zeming Fu","orcid":null,"position":3,"is_corresponding":false},{"id":1654271,"name":"Guofang Guan","orcid":null,"position":4,"is_corresponding":false},{"id":276486,"name":"Shuang Han","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Prevalence and Characteristics of STRC Gene Mutations (DFNB16): A Systematic Review and Meta-Analysis","abstract":"<jats:p><jats:bold>Background:</jats:bold> 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.</jats:p><jats:p><jats:bold>Methods:</jats:bold> PubMed, Google Scholar, Medline, Embase, and Web of Science were searched for relevant articles published before January 2021.</jats:p><jats:p><jats:bold>Results:</jats:bold> 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).</jats:p><jats:p><jats:bold>Conclusion:</jats:bold> 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.</jats:p>","is_dataset_classified":null,"base_score":3.332204510175204,"endowment":3.332204510175204,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"34621290","pmcid":"PMC8491653","openalex_id":"https://openalex.org/W3201268251","authors":[],"funders":[],"total_grants":0,"fwci":1.1448,"citation_percentile":0.6686747,"influential_citations":0,"citation_trend":[{"year":2022,"count":1},{"year":2023,"count":6},{"year":2024,"count":9},{"year":2025,"count":7},{"year":2026,"count":4}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://doi.org/10.3389/fgene.2021.707845","host_type":"journal"},{"url":"https://doi.org/10.3389/fgene.2021.707845","host_type":"publisher"},{"url":"https://www.frontiersin.org/articles/10.3389/fgene.2021.707845/full","host_type":"publisher"},{"url":"https://pubmed.ncbi.nlm.nih.gov/34621290","host_type":"repository"},{"url":"https://doaj.org/article/74566873859a46068093f85d7f68a820","host_type":"repository"},{"url":"http://europepmc.org/pmc/articles/PMC8491653","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8491653","host_type":"repository"},{"url":"https://www.frontiersin.org/articles/10.3389/fgene.2021.707845/pdf","host_type":"Unpaywall"},{"url":"https://europepmc.org/articles/PMC8491653","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC8491653?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Hearing, Cochlea, Tinnitus, Genetics","Ear Surgery and Otitis Media","Vestibular and auditory disorders"],"mesh_terms":[],"keywords":["Hearing loss","Meta-analysis","Medicine","Genetics","Biology","Internal medicine","Audiology","Mutation","Prevalence","Deafness","Strc Gene"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"omim"},{"name":"doi"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-06T18:27:45.632868Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}