Novel GPR156 variants confirm its role in moderate sensorineural hearing loss.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
09 10 2023
09 10 2023
Historique:
received:
19
05
2023
accepted:
05
10
2023
medline:
1
11
2023
pubmed:
10
10
2023
entrez:
9
10
2023
Statut:
epublish
Résumé
Hereditary hearing loss (HL) is a genetically heterogeneous disorder affecting people worldwide. The implementation of advanced sequencing technologies has significantly contributed to the identification of novel genes involved in HL. In this study, probands of two Turkish families with non-syndromic moderate HL were subjected to exome sequencing. The data analysis identified the c.600G > A (p.Thr200Thr) and c.1863dupG (p.His622fs) variants in GPR156, which co-segregated with the phenotype as an autosomal recessive trait in the respective families. The in silico predictions and a minigene assay showed that the c.600G > A variant disrupts mRNA splicing. This gene belongs to the family of G protein-coupled receptors whose function is not well established in the inner ear. GPR156 variants have very recently been reported to cause HL in three families. Our study from a different ethnic background confirms GPR156 as a bona fide gene involved in HL in humans. Further investigation towards the understanding of the role of GPCRs in the inner ear is warranted.
Identifiants
pubmed: 37814107
doi: 10.1038/s41598-023-44259-4
pii: 10.1038/s41598-023-44259-4
pmc: PMC10562426
doi:
Substances chimiques
Receptors, G-Protein-Coupled
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
17010Subventions
Organisme : NIDCD NIH HHS
ID : R01 DC009645
Pays : United States
Informations de copyright
© 2023. Springer Nature Limited.
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