ArticleInternational journal of pediatric otorhinolaryngology2017
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
Article in International journal of pediatric otorhinolaryngology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 25 citations in OpenAlex.
- Mutational spectrum of SLC26A4 and SLC26A5 associated with hereditary hearing loss in Moroccan families.Human genomics · 2026Article
- A UniqueInternational journal of molecular sciences · 2026Article
- Article
- An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.Molecular genetics & genomic medicine · 2025Article
- A Novel 1259 bp Intragenic Deletion in theAudiology research · 2025Article
- Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7-Year Follow-Up With Clinical, Genetic, and ACMG Insights in an Iranian Family.Molecular genetics & genomic medicine · 2025Article
- Article
- Article
- Identification of novel and known genetic variants associated with hereditary hearing loss in iranian families using whole exome sequencing.Molecular biology reports · 2024Article
- Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China.BMC medical genomics · 2024Article
- The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.Scientific reports · 2024Article
- Pancreatitis as a Main Consequence ofInternational journal of genomics · 2024Article
- Article
- Article
- Maternally transmitted nonsyndromic hearing impairment may be associated with mitochondrial tRNAJournal of clinical laboratory analysis · 2022Article
- Genetic etiology of non-syndromic hearing loss in Latin America.Human genetics · 2022Review
- Different Rates of theDiagnostics (Basel, Switzerland) · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 12 institutions in 4 countries.
Funding
Abstract
objectivesThe genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations.
methodsWhole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural hearing loss with or without inner ear anomalies but not with goiter from Turkey, Iran, and Mexico were performed.
resultsWe identified 27 unique SLC26A4 variants in 31 probands. The variants c.1673A > G (p.N558S), c.1708-1G > A, c.1952C > T (p.P651L), and c.2090-1G > A have not been previously reported. The p.N558S variant was detected in two unrelated Mexican families.
conclusionA range of SLC26A4 variants without a common recurrent mutation underlies SLC26A4-related hearing loss in Turkey, Iran, and Mexico.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.