Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.
Journal
PloS one
ISSN: 1932-6203
Titre abrégé: PLoS One
Pays: United States
ID NLM: 101285081
Informations de publication
Date de publication:
2023
2023
Historique:
received:
12
12
2022
accepted:
13
07
2023
medline:
14
8
2023
pubmed:
10
8
2023
entrez:
10
8
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37561809
doi: 10.1371/journal.pone.0289247
pii: PONE-D-22-34031
pmc: PMC10414579
doi:
Substances chimiques
Connexins
0
Connexin 26
127120-53-0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e0289247Informations de copyright
Copyright: © 2023 Broojeni et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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