Novel GPR156 variants confirm its role in moderate sensorineural hearing loss
Abstract 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...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2023-10-01
|
| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-023-44259-4 |
| _version_ | 1827710969078349824 |
|---|---|
| author | Memoona Ramzan Nazim Bozan Serhat Seyhan Mohammad Faraz Zafeer Aburrahman Ayral Duygu Duman Guney Bademci Mustafa Tekin |
| author_facet | Memoona Ramzan Nazim Bozan Serhat Seyhan Mohammad Faraz Zafeer Aburrahman Ayral Duygu Duman Guney Bademci Mustafa Tekin |
| author_sort | Memoona Ramzan |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-03-10T17:47:14Z |
| format | Article |
| id | doaj.art-c699bcbbf2c84a2a801a2adb56b2a9f2 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-03-10T17:47:14Z |
| publishDate | 2023-10-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-c699bcbbf2c84a2a801a2adb56b2a9f22023-11-20T09:29:17ZengNature PortfolioScientific Reports2045-23222023-10-011311510.1038/s41598-023-44259-4Novel GPR156 variants confirm its role in moderate sensorineural hearing lossMemoona Ramzan0Nazim Bozan1Serhat Seyhan2Mohammad Faraz Zafeer3Aburrahman Ayral4Duygu Duman5Guney Bademci6Mustafa Tekin7John P. Hussman Institute for Human Genomics, University of Miami Miller School of MedicineDepartment of Otolaryngology, Yuzuncu Yil University School of MedicineDepartment of Medical Genetics, Faculty of Medicine, Uskudar UniversityJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of MedicineDepartment of Otolaryngology, Yuzuncu Yil University School of MedicineDepartment of Audiology, Ankara University Faculty of Health SciencesDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of MedicineJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of MedicineAbstract 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.https://doi.org/10.1038/s41598-023-44259-4 |
| spellingShingle | Memoona Ramzan Nazim Bozan Serhat Seyhan Mohammad Faraz Zafeer Aburrahman Ayral Duygu Duman Guney Bademci Mustafa Tekin Novel GPR156 variants confirm its role in moderate sensorineural hearing loss Scientific Reports |
| title | Novel GPR156 variants confirm its role in moderate sensorineural hearing loss |
| title_full | Novel GPR156 variants confirm its role in moderate sensorineural hearing loss |
| title_fullStr | Novel GPR156 variants confirm its role in moderate sensorineural hearing loss |
| title_full_unstemmed | Novel GPR156 variants confirm its role in moderate sensorineural hearing loss |
| title_short | Novel GPR156 variants confirm its role in moderate sensorineural hearing loss |
| title_sort | novel gpr156 variants confirm its role in moderate sensorineural hearing loss |
| url | https://doi.org/10.1038/s41598-023-44259-4 |
| work_keys_str_mv | AT memoonaramzan novelgpr156variantsconfirmitsroleinmoderatesensorineuralhearingloss AT nazimbozan novelgpr156variantsconfirmitsroleinmoderatesensorineuralhearingloss AT serhatseyhan novelgpr156variantsconfirmitsroleinmoderatesensorineuralhearingloss AT mohammadfarazzafeer novelgpr156variantsconfirmitsroleinmoderatesensorineuralhearingloss AT aburrahmanayral novelgpr156variantsconfirmitsroleinmoderatesensorineuralhearingloss AT duyguduman novelgpr156variantsconfirmitsroleinmoderatesensorineuralhearingloss AT guneybademci novelgpr156variantsconfirmitsroleinmoderatesensorineuralhearingloss AT mustafatekin novelgpr156variantsconfirmitsroleinmoderatesensorineuralhearingloss |