Mitochondrial tRNASer(UCN) mutations associated non-syndromic sensorineural hearing loss in Chinese families
Mitochondrial transfer RNA mutation is one of the most important causes of hereditary hearing loss in humans. Mitochondrial transfer RNASer (UCN) gene is another hot spot for mutations associated with non-syndromic hearing loss, besides the 12S ribosomal RNA gene. In this study, we assessed the clin...
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Elsevier
2024-03-01
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S240584402403072X |
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| author | Dejun Zhang Jie Wu Yongyi Yuan Xiaohong Li Xue Gao Dongyang Kang Xin Zhang Sha-sha Huang Pu Dai |
| author_facet | Dejun Zhang Jie Wu Yongyi Yuan Xiaohong Li Xue Gao Dongyang Kang Xin Zhang Sha-sha Huang Pu Dai |
| author_sort | Dejun Zhang |
| collection | DOAJ |
| description | Mitochondrial transfer RNA mutation is one of the most important causes of hereditary hearing loss in humans. Mitochondrial transfer RNASer (UCN) gene is another hot spot for mutations associated with non-syndromic hearing loss, besides the 12S ribosomal RNA gene. In this study, we assessed the clinical phenotype and the molecular characteristics of two Chinese families with non-syndromic hearing loss. Mutational analysis revealed that 7445A > G and 7510T > C mutations in the mitochondrial transfer RNASer (UCN) gene were the molecular etiology of Family 1 and Family 2, respectively. However, the clinical and genetic characteristics of the two families carrying the above mutations in the transfer RNASer (UCN) gene exhibited a variable expression of hearing loss and an incomplete penetrance. Sequencing analysis of the complete mitochondrial genome showed the presence of transfer RNATrp 5568A > G and NADH-ubiquinone oxidoreductase chain 4 11696G > A mutations in Family 1. The mitochondrial haplotype analysis showed that the two families belonged to Asian D4 and M80′D haplotypes, respectively, and no pathogenic variations were found in the nuclear genes. To our knowledge, our study is the first to report 7445A > G and 7510T > C mutations in the mitochondrial transfer RNASer (UCN) gene, in multi-generation non-syndromic hearing loss pedigrees from China. Our study suggests that 5568A > G and 11696G > A mutations may enhance the penetrance of hearing loss in Chinese Family 1, while mitochondrial haplotypes and known nuclear genes may not be modifiers for the phenotypic expression of 7445A > G and 7510T > C mutations in these Chinese families. |
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| id | doaj.art-1796d39c7d98440f93dd6ec8d217980d |
| institution | Directory Open Access Journal |
| issn | 2405-8440 |
| language | English |
| last_indexed | 2024-04-24T13:50:05Z |
| publishDate | 2024-03-01 |
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| series | Heliyon |
| spelling | doaj.art-1796d39c7d98440f93dd6ec8d217980d2024-04-04T05:04:21ZengElsevierHeliyon2405-84402024-03-01106e27041Mitochondrial tRNASer(UCN) mutations associated non-syndromic sensorineural hearing loss in Chinese familiesDejun Zhang0Jie Wu1Yongyi Yuan2Xiaohong Li3Xue Gao4Dongyang Kang5Xin Zhang6Sha-sha Huang7Pu Dai8Department of Otolaryngology Head and Neck Surgery, The Second Hospital of Jilin University, Changchun, China; ColIege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Beijing, China; State Key Lab of Hearing Science, Ministry of Education, National Clinical Research Center for Otolaryngologic Diseases, Beijing, China; Beijing Key Lab of Hearing Impairment for Prevention and Treatment, Beijing, ChinaColIege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Beijing, China; State Key Lab of Hearing Science, Ministry of Education, National Clinical Research Center for Otolaryngologic Diseases, Beijing, China; Beijing Key Lab of Hearing Impairment for Prevention and Treatment, Beijing, ChinaColIege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Beijing, China; State Key Lab of Hearing Science, Ministry of Education, National Clinical Research Center for Otolaryngologic Diseases, Beijing, China; Beijing Key Lab of Hearing Impairment for Prevention and Treatment, Beijing, ChinaDepartment of Otolaryngology, Head and Neck Surgery, National Children's Medical Center/Beijing Children's Hospital, Capital Medical University, Beijing, ChinaDepartment of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, ChinaColIege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Beijing, China; State Key Lab of Hearing Science, Ministry of Education, National Clinical Research Center for Otolaryngologic Diseases, Beijing, China; Beijing Key Lab of Hearing Impairment for Prevention and Treatment, Beijing, ChinaColIege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Beijing, China; State Key Lab of Hearing Science, Ministry of Education, National Clinical Research Center for Otolaryngologic Diseases, Beijing, China; Beijing Key Lab of Hearing Impairment for Prevention and Treatment, Beijing, ChinaColIege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Beijing, China; State Key Lab of Hearing Science, Ministry of Education, National Clinical Research Center for Otolaryngologic Diseases, Beijing, China; Beijing Key Lab of Hearing Impairment for Prevention and Treatment, Beijing, China; Corresponding author. ColIege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Beijing, China.ColIege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Beijing, China; State Key Lab of Hearing Science, Ministry of Education, National Clinical Research Center for Otolaryngologic Diseases, Beijing, China; Beijing Key Lab of Hearing Impairment for Prevention and Treatment, Beijing, China; Corresponding author. ColIege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Beijing, China.Mitochondrial transfer RNA mutation is one of the most important causes of hereditary hearing loss in humans. Mitochondrial transfer RNASer (UCN) gene is another hot spot for mutations associated with non-syndromic hearing loss, besides the 12S ribosomal RNA gene. In this study, we assessed the clinical phenotype and the molecular characteristics of two Chinese families with non-syndromic hearing loss. Mutational analysis revealed that 7445A > G and 7510T > C mutations in the mitochondrial transfer RNASer (UCN) gene were the molecular etiology of Family 1 and Family 2, respectively. However, the clinical and genetic characteristics of the two families carrying the above mutations in the transfer RNASer (UCN) gene exhibited a variable expression of hearing loss and an incomplete penetrance. Sequencing analysis of the complete mitochondrial genome showed the presence of transfer RNATrp 5568A > G and NADH-ubiquinone oxidoreductase chain 4 11696G > A mutations in Family 1. The mitochondrial haplotype analysis showed that the two families belonged to Asian D4 and M80′D haplotypes, respectively, and no pathogenic variations were found in the nuclear genes. To our knowledge, our study is the first to report 7445A > G and 7510T > C mutations in the mitochondrial transfer RNASer (UCN) gene, in multi-generation non-syndromic hearing loss pedigrees from China. Our study suggests that 5568A > G and 11696G > A mutations may enhance the penetrance of hearing loss in Chinese Family 1, while mitochondrial haplotypes and known nuclear genes may not be modifiers for the phenotypic expression of 7445A > G and 7510T > C mutations in these Chinese families.http://www.sciencedirect.com/science/article/pii/S240584402403072XHearing lossMitochondriaTransfer RNANon-syndromicTransfer RNASer(UCN) |
| spellingShingle | Dejun Zhang Jie Wu Yongyi Yuan Xiaohong Li Xue Gao Dongyang Kang Xin Zhang Sha-sha Huang Pu Dai Mitochondrial tRNASer(UCN) mutations associated non-syndromic sensorineural hearing loss in Chinese families Heliyon Hearing loss Mitochondria Transfer RNA Non-syndromic Transfer RNASer(UCN) |
| title | Mitochondrial tRNASer(UCN) mutations associated non-syndromic sensorineural hearing loss in Chinese families |
| title_full | Mitochondrial tRNASer(UCN) mutations associated non-syndromic sensorineural hearing loss in Chinese families |
| title_fullStr | Mitochondrial tRNASer(UCN) mutations associated non-syndromic sensorineural hearing loss in Chinese families |
| title_full_unstemmed | Mitochondrial tRNASer(UCN) mutations associated non-syndromic sensorineural hearing loss in Chinese families |
| title_short | Mitochondrial tRNASer(UCN) mutations associated non-syndromic sensorineural hearing loss in Chinese families |
| title_sort | mitochondrial trnaser ucn mutations associated non syndromic sensorineural hearing loss in chinese families |
| topic | Hearing loss Mitochondria Transfer RNA Non-syndromic Transfer RNASer(UCN) |
| url | http://www.sciencedirect.com/science/article/pii/S240584402403072X |
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