ArticleScientific reports2017
Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review.BioMed research international · 2018Pooled it
- Predisposing Factors for Congenital Hearing Loss: A Comprehensive Systematic Review.Turkish archives of otorhinolaryngology · 2026Article
- Long-term restoration of auditory function in a DFNA2 mouse model by adenine base editing.EMBO molecular medicine · 2026Article
- Gene supplementation with precise transgene expression rescues hearing loss in a mouse model with an Mpzl2 East Asian founder variant.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.Cell reports. Medicine · 2025Article
- Biallelic variants of SEMA3F are associated with nonsyndromic hearing loss.Molecules and cells · 2025Article
- Common genetic etiologies of sensorineural hearing loss in Koreans.Genomics & informatics · 2024Review
- MYH1 deficiency disrupts outer hair cell electromotility, resulting in hearing loss.Experimental & molecular medicine · 2024Article
- Functional pathogenicity of ESRRB variant of uncertain significance contributes to hearing loss (DFNB35).Scientific reports · 2024Article
- Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants ofJournal of clinical medicine · 2024Article
- Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss.Journal of clinical medicine · 2024Article
- Genetic Characteristics and Audiological Performance After Cochlear Implantation in Patients With Incomplete Partition Type III.Clinical and experimental otorhinolaryngology · 2023Article
- [Genetics of pediatric hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2023Review
- Article
- Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort.JAMA network open · 2022Article
- COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.Human genetics · 2022Article
- Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.Human genetics · 2022Article
- Article
- Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene.Molecular genetics & genomic medicine · 2021Article
- The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis.Iranian journal of basic medical sciences · 2020Review
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Discriminating between inherited and non-inherited sporadic hearing loss is challenging. Here, we attempted to delineate genetic inheritance in simplex cases of severe-to-profound congenital hearing loss in Korean children. Variations in SLC26A4 and GJB2 in 28 children with bilateral severe-to-profound non-syndromic hearing loss (NSHL) without familial history were analyzed using Sanger sequencing. Genetic analysis of individuals without mutations in SLC26A4 and GJB2 was performed by whole exome sequencing (WES). Bi-allelic mutations in SLC26A4 and GJB2 were identified in 12 and 3 subjects, respectively. Of the 13 individuals without mutations in SLC26A4 and GJB2, 2 and 1 carried compound heterozygous mutations in MYO15A and CDH23, respectively. Thus, 64.3% (18/28) of individuals with NSHL were determined to be genetically predisposed. Individuals with sporadic severe-to-profound NSHL were found to mostly exhibit an autosomal recessive inheritance pattern. Novel causative candidate genes for NSHL were identified by analysis of WES data of 10 families without mutations in known causative genes. Bi-allelic mutations predisposing to NSHL were identified in 64.3% of subjects with sporadic severe-to-profound NSHL. Given that several causative genes for NSHL are still unidentified, genetic inheritance of sporadic congenital hearing loss could be more common than that indicated by our results.
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