ArticleMolecular genetics & genomic medicine2021
Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Task force Guideline of Brazilian Society of Otology ‒ hearing loss in children - Part I ‒ Evaluation.Brazilian journal of otorhinolaryngologyGuideline
- SLC26A4 C.317C > A Variant: Functional Analysis and Patient-Derived Induced Pluripotent Stem Line Development.Molecular genetics & genomic medicine · 2025Article
- Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay.BMC medical genomics · 2024Article
- A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts.Molecular genetics & genomic medicine · 2024Article
- Exonic Deletions and Deep Intronic Variants of theHuman mutation · 2024Article
- Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of theFrontiers in genetics · 2023Article
- Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) AnomaliesInternational journal of molecular sciences · 2022Article
- Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing.Frontiers in genetics · 2022Article
- Different Rates of theDiagnostics (Basel, Switzerland) · 2021Article
- Genetics of Inner Ear Malformations: A Review.Audiology research · 2021Review
- Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review.Audiology research · 2021Review
- Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene.Molecular genetics & genomic medicine · 2021Article
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Authors and funding
23 authors at 9 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe enlarged vestibular aqueduct (EVA) is the commonest malformation of inner ear accompanied by sensorineural hearing loss in children. Three genes SLC26A4, FOXI1, and KCNJ10 have been associated with EVA, among them SLC26A4 being the most common. Yet, hotspot mutation screening can only diagnose a small number of patients.
methodsThus, in this study, we designed a new molecular diagnosis panel for EVA based on multiplex PCR enrichment and next-generation sequencing of the exon and flanking regions of SLC26A4. A total of 112 hearing loss families with EVA were enrolled and the pathogenicity of the rare variants detected was interpreted according to the American College of Medical Genetics and Genomics (ACMG) guidelines.
resultsOur results showed that 107/112 (95.54%) families carried SLC26A4 biallelic mutations, 4/112 (3.57%) carried monoallelic variants, and 1/112 (0.89%) had none variant, resulting in a diagnostic rate of 95.54%. A total of 49 different variants were detected in those patients and we classified 30 rare variants as pathogenic/likely pathogenic, of which 13 were not included in the Clinvar database.
conclusionOur diagnostic panel has an increased diagnostic yield with less cost, and the curated list of pathogenic variants in the SLC26A4 gene can be directly used to aid the genetic counseling to patients.
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