ArticlePloS one2019
Mutation screening in non-syndromic hearing loss patients with cochlear implantation by massive parallel sequencing in Taiwan.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 32 citations in OpenAlex.
- NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss.Journal of applied genetics · 2026Article
- A Novel Mutation in ACTG1 as the Probable Cause of Nonsyndromic Hearing Loss in Chinese Han Population.Neural plasticity · 2026Article
- [Expert consensus on prognostic evaluation of cochlear implantation in hereditary hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- Outcomes of cochlear implantation in 75 patients with auditory neuropathy.Frontiers in neuroscience · 2023Article
- Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in theGenes · 2022Article
- Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.BMC medical genomics · 2022Article
- Comprehensive Etiologic Analyses in Pediatric Cochlear Implantees and the Clinical Implications.Biomedicines · 2022Article
- AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss.Human genetics · 2022Article
- Case Report: A NovelFrontiers in genetics · 2022Article
- DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.Audiology research · 2021Article
- Article
- Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.Genes · 2021Article
- [The value of genetic diagnosis of deafness in evaluating the prognosis of cochlear implantation].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 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
- Cochlear Implantation From the Perspective of Genetic Background.Anatomical record (Hoboken, N.J. : 2007) · 2020Review
- Genotype-Phenotype Correlation for Predicting Cochlear Implant Outcome: Current Challenges and Opportunities.Frontiers in genetics · 2020Review
- Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.BMC medical genetics · 2019Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo explore the molecular epidemiology of rare deafness genes in Taiwanese sensorineural hearing impairment (SNHI) patients with cochlear implantation (CI) by performing massive parallel sequencing (MPS) and correlating genetic factors and CI outcomes.
methodsWe enrolled 41 Taiwanese non-syndromic deafness patients with CI that lacked known mutations in common deafness genes. All probands were screened by a targeted exon amplification method that used massively parallel sequencing to screen a customized panel that included 40 relatively rare non-syndromic deafness genes.
resultsThirteen candidate variants in nine relatively rare deafness genes (MYO15A, TMC1, MYH14, MYO3A, ACTG1, COL11A2, DSPP, GRHL2, and WFS1) were identified in 24.4% (10/41) of the non-syndromic deafness probands with CI. According to the ACMG Standards and Guidelines, five variants in MYO15A and ACTG1 were classified as likely pathogenic variants. Two of three multi-generational pedigrees exhibiting deafness were analyzed for the segregation of the disorder with the possible disease-causing variants. Patients with variants detected in most of the identified variant-bearing genes showed relatively good CI outcomes.
conclusionsWe successfully identified candidate variants in partially deaf Taiwanese probands who lacked the known mutations in common deafness genes. Comparing the progress of hearing rehabilitation in CI patients with their apparent causative variants and the expression profiles of their altered genes allowed us to speculate on how alterations in specific gene sets may influence outcomes in hearing rehabilitation after CI.
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