ArticleScientific reports2022
Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 27 citations in OpenAlex.
- Inositol pyrophosphate kinases in health and disease.FEBS letters · 2026Review
- Auditory genotype-phenotype correlation of patients with variants in STRC.Scientific reports · 2025Article
- Targeted long-read nanopore sequencing as a complementary approach for detecting STRC variants and distinguishing the STRCP1 pseudogene.Scientific reports · 2025Article
- Determination of carriers of deafness-infertility syndrome in Peru.Orphanet journal of rare diseases · 2025Article
- Treating Hearing Loss: From Cochlear Implantation to Gene Therapy.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Review
- Prevalence and spectrum of STRC variants in 1015 sensorineural hearing loss patients: insights from the Chinese population.Molecular genetics and genomics : MGG · 2025Article
- Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patients.Journal of human genetics · 2025Article
- Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variants.Experimental & molecular medicine · 2025Article
- The known structural variations in hearing loss and their diagnostic approaches: a comprehensive review.Molecular biology reports · 2025Review
- Distinct Genes with Similar Functions Underlie Convergent Evolution in Myotis Bat Ecomorphs.Molecular biology and evolution · 2024Article
- Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High-Throughput Sequencing in a Unique Cohort from South India.Advanced genetics (Hoboken, N.J.) · 2024Article
- Detailed Clinical Features ofGenes · 2024Article
- Involvement ofF&S reports · 2024Article
- Review
- Dispersed DNA variants underlie hearing loss in South Florida's minority population.Human genomics · 2023Article
- Behavioral characterization of the cochlear amplifier lesion due to loss of function of stereocilin (STRC) in human subjects.Hearing research · 2023Article
- Novel Pathogenic Variants in the Gene Encoding Stereocilin (Biomedicines · 2023Article
- The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing.International journal of neonatal screening · 2022Article
- Diagnostic Yield and Genetic Variation in 85 Swedish Patients with Mild to Profound Hearing Loss Analyzed by Whole Genome Sequencing.Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-facialeArticle
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2 authors at 1 institution in 1 country.
Funding
Abstract
The STRC gene, located on chromosome 15q15.3, is one of the genetic causes of autosomal recessive mild-to-moderate sensorineural hearing loss. One of the unique characteristics of STRC-associated hearing loss is the high prevalence of long deletions or copy number variations observed on chromosome 15q15.3. Further, the deletion of chromosome 15q15.3 from STRC to CATSPER2 is also known to be a genetic cause of deafness infertility syndrome (DIS), which is associated with not only hearing loss but also male infertility, as CATSPER2 plays crucial roles in sperm motility. Thus, information regarding the deletion range for each patient is important to the provision of appropriate genetic counselling for hearing loss and male infertility. In the present study, we performed next-generation sequencing (NGS) analysis for 9956 Japanese hearing loss patients and analyzed copy number variations in the STRC gene based on NGS read depth data. In addition, we performed Multiplex Ligation-dependent Probe Amplification analysis to determine the deletion range including the PPIP5K1, CKMT1B, STRC and CATSPER2 genomic region to estimate the prevalence of the STRC-CATSPER deletion, which is causative for DIS among the STRC-associated hearing loss patients. As a result, we identified 276 cases with STRC-associated hearing loss. The prevalence of STRC-associated hearing loss in Japanese hearing loss patients was 2.77% (276/9956). In addition, 77.1% of cases with STRC homozygous deletions carried a two copy loss of the entire CKMT1B-STRC-CATSPER2 gene region. This information will be useful for the provision of more appropriate genetic counselling regarding hearing loss and male infertility for the patients with a STRC deletion.
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