ArticleEuropean journal of pediatrics2009
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.
Article in European journal of pediatrics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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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.
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Who cites it
12 citing papers in PubMed, 37 citations in OpenAlex.
- Mutational spectrum of SLC26A4 and SLC26A5 associated with hereditary hearing loss in Moroccan families.Human genomics · 2026Article
- A Village in the Southeastern Region of Iran Harboring the c.716T>A (p.Val239Asp) Mutation inArchives of Iranian medicine · 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
- Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene.Scientific reports · 2021Article
- Molecular diagnosis ofIntractable & rare diseases research · 2021Article
- Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative forIranian journal of public health · 2019Article
- Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.Human mutation · 2019Article
- Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance inIranian journal of public health · 2018Article
- Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.International journal of pediatric otorhinolaryngology · 2017Article
- Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.Archives of Iranian medicine · 2016Review
- Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome.Clinical and experimental otorhinolaryngology · 2013Article
- Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss.Iranian journal of public health · 2011Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
Mutations in the SLC26A4 gene at the DFNB4 locus are responsible for Pendred syndrome and non-syndromic hereditary hearing loss (DFNB4). This study included 80 nuclear families with two or more siblings segregating presumed autosomal recessive hearing loss. All deaf persons tested negative for mutations in GJB2 at the DFNB1 locus and were, therefore, screened for autozygosity by descent (ABD) using short tandem repeat polymorphisms (STRPs) that flanked SLC26A4. In 12 families, homozygosity for STRPs suggested possible ABD in this genomic region. Affected individuals in five families had a positive perchlorate discharge test. Sequence analysis of SLC26A4 identified ten mutations in eight families (T420I, 1197delT, G334V, R409H, T721M, R79X, S448L, L597S, 965insA and L445W), of which, four are novel (T420I, G334V, 965insA and R79X). These results imply that Pendred syndrome is the most prevalent form of syndromic hereditary hearing loss in Iran.
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Registered trials
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