Novel GPR156 variants confirm its role in moderate sensorineural hearing loss.

Autor: Ramzan M; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10Th Avenue, BRB-610 (M860), Miami, FL, 33136, USA., Bozan N; Department of Otolaryngology, Yuzuncu Yil University School of Medicine, Van, Turkey., Seyhan S; Department of Medical Genetics, Faculty of Medicine, Uskudar University, Istanbul, Turkey., Zafeer MF; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10Th Avenue, BRB-610 (M860), Miami, FL, 33136, USA., Ayral A; Department of Otolaryngology, Yuzuncu Yil University School of Medicine, Van, Turkey., Duman D; Department of Audiology, Ankara University Faculty of Health Sciences, Ankara, Turkey., Bademci G; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Tekin M; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10Th Avenue, BRB-610 (M860), Miami, FL, 33136, USA. MTekin@med.miami.edu.; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA. MTekin@med.miami.edu.
Jazyk: angličtina
Zdroj: Scientific reports [Sci Rep] 2023 Oct 09; Vol. 13 (1), pp. 17010. Date of Electronic Publication: 2023 Oct 09.
DOI: 10.1038/s41598-023-44259-4
Abstrakt: 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.
(© 2023. Springer Nature Limited.)
Databáze: MEDLINE
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