ArticlePloS one2023
Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.
Article in PloS one, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- Situational analysis of health systems for ear and hearing care in the World Health Organization (WHO) Eastern Mediterranean Region: A systematic review and evidence synthesis to inform national policies and strategies.SSM - health systems · 2026Article
- Genetic screening for hearing loss of 38,589 neonates with follow-up in South China.Human genomics · 2025Article
- Adhesion G-Protein Coupled Receptors in Neurological and Psychiatric Disorders.Journal of psychiatry and brain science · 2025Article
- First clinical report of a rare PDZD7 nonsense variant and recurrent mutations in Iranian families with autosomal recessive non-syndromic hearing loss.BMC medical genomics · 2025Article
- Discovering the pathogenesis of a VUS variant in CDH23 associated with sensorineural hearing loss in an Iranian family.Molecular biology reports · 2025Article
- A novel variant c.902C>A (p. A301D) in KCNQ4 associated with non-syndromic deafness 2A in a Chinese family.Molecular genetics & genomic medicine · 2024Article
- A novel method for detecting nine hotspot mutations of deafness genes in one tube.Scientific reports · 2024Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive non-syndromic hearing loss (ARNSHL) is a public health concern in the Iranian population, with an incidence of 1 in 166 live births. In the present study, the whole exome sequencing (WES) method was applied to identify the mutation spectrum of NSHL patients negative for GJB2 gene mutations. First, using ARMS PCR followed by Sanger sequencing of the GJB2 gene, 63.15% of mutations in patients with NSHL were identified. Among the identified mutations in GJB2:p.Val43Met and p.Gly21Arg were novel. The remaining patients were subjected to WES, which identified novel mutations including MYO15A:p.Gly39LeufsTer188, ADGRV1:p.Ser5918ValfsTer23, MYO7A: c.5856+2T>c (splicing mutation), FGF3:p.Ser156Cys. The present study emphasized the application of WES as an effective method for molecular diagnosis of NSHL patients negative for GJB2 gene mutations in the Iranian population.
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