Analysis of the Spectrum of the mtDNA Haplogroups in Patients with Hearing Loss Carrying the Likely Pathogenic Ultra-Rare m.1494C>T Variant in the Gene

REFERENCES

1. Zhu, Y., Li, Q., Chen, Z., et al., Mitochondrial haplotype and phenotype of 13 Chinese families may suggest multi-original evolution of mitochondrial C1494T mutation, Mitochondrion, 2009, vol. 9, no. 6, pp. 418–428. https://doi.org/10.1016/j.mito.2009.07.006

2. Lu, J., Li, Z., Zhu, Y., et al., Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss, Mitochondrion, 2010, vol. 10, no. 4, pp. 380–390. https://doi.org/10.1016/j.mito.2010.01.007

3. Yang, X.L., Bai-Cheng, X., Chen, X.J., et al., Common molecular etiology of patients with nonsyndromic hearing loss in Tibetan, Tu nationality, and Mongolian patients in the northwest of China, Acta Otolaryngol., 2013, vol. 133, no. 9, pp. 930–934. https://doi.org/10.3109/00016489.2013.795288

4. Ma, Y., Xiao, Y., Bai, X., et al., GJB2, SLC26A4, and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China, Acta Otolaryngol., 2016, vol. 136, no. 8, pp. 800–805. https://doi.org/10.3109/00016489.2016.1164893

5. Zhou, Y., Li, C., Li, M., et al., Mutation analysis of common deafness genes among 1,201 patients with non‐syndromic hearing loss in Shanxi Province, Mol. Genet. Genomic Med., 2019, vol. 7, no. 3, p. e537. https://doi.org/10.1002/mgg3.537

6. Ming, L., Wang, Y., Lu, W., and Sun, T., A mutational analysis of GJB2, SLC26A4, MT-RNA1, and GJB3 in children with nonsyndromic hearing loss in the Henan province of China, Genet. Test. Mol. Biomarkers, 2019, vol. 23, no. 1, pp. 51–56. https://doi.org/10.1089/gtmb.2018.0146

7. Gao, Zh. and Yuan, Y.-S., Screening for mitochondrial 12S rRNA C1494T mutation in 655 patients with non-syndromic hearing loss, Medicine (Baltimore), 2020, vol. 99, no. 13, p. e19373. https://doi.org/10.1097/md.0000000000019373

8. Ding, Y., Lang, J., Zhang, J., et al., Screening for deafness-associated mitochondrial 12S rRNA mutations by using a multiplex allele-specific PCR method, Biosci. Rep., 2020, vol. 40, no. 5. https://doi.org/10.1042/bsr20200778

9. Duan, S., Guo, Y., Chen, X., and Li, Y., Genetic mutations in patients with nonsyndromic hearing impairment of minority and Han Chinese ethnicities in Qinghai, China, J. Int. Med. Res., 2021, vol. 49, no. 4. https://doi.org/10.1177/03000605211000892

10. Wang, Y., Chen, W., Liu, Z., et al., Comparison of the mutation spectrum of common deafness-causing genes in 509 patients with nonsyndromic hearing loss in 4 different areas of China by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, J. Int. Adv. Otol., 2021, vol. 17, no. 6, pp. 492–499. https://doi.org/10.5152/iao.2021.21086

11. Dai, Q., Dai, W., Wang, D., et al., Molecular screening of patients with profound hearing loss from Chengdu, China, Acta Otolaryngol., 2022, vol. 142, no. 1, pp. 57–60. https://doi.org/10.1080/00016489.2021.2014564

12. Ma, P., Zhou, B., Kang, Q., et al., Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants, Mol. Genet. Genomic Med., 2024, vol. 12, no. 6, p. 2434. https://doi.org/10.1002/mgg3.2434

13. Yano, T., Nishio, S.Y., Usami, S., and Deafness Gene Study Consortium, Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening, J. Hum. Genet., 2014, vol. 59, no. 2, pp. 100–106. https://doi.org/10.1038/jhg.2013.128

14. Bae, J.W., Lee, K.Y., Choi, S.Y., et al., Molecular analysis of mitochondrial gene mutations in Korean patients with nonsyndromic hearing loss, Int. J. Mol. Med., 2008, vol. 22, no. 2, pp. 175–180. https://doi.org/10.3892/ijmm_00000005

15. Zohour, M.M., Tabatabaiefar, M.A., Dehkordi, F.A., et al., Large-scale screening of mitochondrial DNA mutations among Iranian patients with prelingual nonsyndromic hearing impairment, Genet. Test. Mol. Biomarkers, 2012, vol. 16, no. 4, pp. 271–278. https://doi.org/10.1089/gtmb.2011.0176

16. Moassass, F., Al-Halabi, B., Nweder, M.S., and Al-Achkar, W., Investigation of the mtDNA mutations in Syrian families with non-syndromic sensorineural hearing loss, Int. J. Pediatr. Otorhinolaryngol., 2018, vol. 113, pp. 110–114. https://doi.org/10.1016/j.ijporl.2018.07.028

17. Yehya, A., Al-Trad, B., Bani-Hmoud, M., and Rababa’h, A.M., Pharmacogenetic screening of A1555G and C1494T mitochondrial mutations and the use of ototoxic drugs among Jordanians, Eur. Rev. Med. Pharmacol. Sci., 2021, vol. 25, no. 18, pp. 5684–5689. https://doi.org/10.26355/eurrev_202109_26787

18. Rodriguez-Ballesteros, M., Olarte, M., Aguirre, L.A., et al., Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene, J. Med. Genet., 2006, vol. 43, no. 11, p. e54. https://doi.org/10.1136/jmg.2006.042440

19. Sukarova Stefanovska, E., Cakar, M., Filipce, I., and Plaseska Karanfilska, D., Genetics of non syndromic hearing loss in the Republic of Macedonia, Balkan J. Med. Genet., 2012, vol. 15, no. suppl., pp. 57–59. https://doi.org/10.2478/v10034-012-0020-0

20. Mkaouar-Rebai, E., Tlili, A., Masmoudi, S., et al., New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss, Biochem. Biophys. Res. Commun., 2008, vol. 369, no. 3, pp. 849–852. https://doi.org/10.1016/j.bbrc.2008.02.107

REFERENCES

1. Derbeneva, O.A., Starikovskaya, E.B., Wallace, D.C., and Sukernik, R.I., Traces of early Eurasians in the Mansi of Northwest Siberia revealed by mitochondrial DNA analysis, Am. J. Hum. Genet., 2002, vol. 70, no. 4, pp. 1009–1014. https://doi.org/10.1086/339524

2. Derenko, M.V., Grzybowski, T., Malyarchuk, B.A., et al., Diversity of mitochondrial DNA lineages in South Siberia, Ann. Hum. Genet., 2003, vol. 67, no. 5, pp. 391–411. https://doi.org/10.1046/j.1469-1809.2003.00035.x

3. Derenko, M., Denisova, G., Dambueva, I., et al., Mitogenomics of modern Mongolic-speaking populations, Mol. Genet. Genomics, 2022, vol. 297, no. 1, pp. 47–62. https://doi.org/10.1007/s00438-021-01830-w

4. Sukernik, R.I., Volodko, N.V., Mazunin, I.O., Eltsov, N.P., Dryomov, S.V., and Starikovskaya, E.B., Mitochondrial genome diversity in the tubalar, even, and ulchi: contribution to prehistory of native siberians and their affinities to native americans, Am. J. Phys. Anthropol., 2012, vol. 148, no. 1, pp. 123–138. https://doi.org/10.1002/ajpa.22050

5. Gubina, M.A., Babenko, V.N., Batsevich, V.A., Leibova, N.A., and Zabiyako, A.P., Polymorphism of mitochondrial DNA and six nuclear genes in the Amur Evenk population, Russ. J. Genet., 2022, vol. 58, no. 1, pp. 42–56. https://doi.org/10.1134/s1022795422010033

6. Cardinali, I., Bodner, M., Capodiferro, M.R., Amory, Ch., Rambaldi Migliore, N., Gomez, E.J., Myagmar, E., Dashzeveg, T., Carano, F., Woodward, S.R., Parson, W., Perego, U.A., Lancioni, H., and Achilli, A., Mitochondrial DNA footprints from Western Eurasia in modern Mongolia, Front. Genet., 2022, vol. 12. https://doi.org/10.3389/fgene.2021.819337

7. Derenko, M., Malyarchuk, B., Bahmanimehr, A., Denisova, G., Perkova, M., Farjadian, Sh., and Yepiskoposyan, L., Complete mitochondrial DNA diversity in Iranians, PLoS One, 2013, vol. 8, no. 11. https://doi.org/10.1371/journal.pone.0080673

8. Irwin, J.A., Ikramov, A., Saunier, J., Bodner, M., Amory, S., Röck, A., O’callaghan, J., Nuritdinov, A., Atakhodjaev, S., Mukhamedov, R., Parson, W., and Parsons, T.J., The mtDNA composition of Uzbekistan: a microcosm of Central Asian patterns, Int. J. Legal Med., 2010, vol. 124, no. 3, pp. 195–204. https://doi.org/10.1007/s00414-009-0406-z

9. Askapuli, A., Vilar, M., Garcia-Ortiz, H., et al., Kazak mitochondrial genomes provide insights into the human population history of Central Eurasia, PLoS One, 2022, vol. 17, no. 11. https://doi.org/10.1371/journal.pone.0277771

10. Liu, J., Wang, L.-D., Sun, Y.-B., et al., Deciphering the signature of selective constraints on cancerous mitochondrial genome, Mol. Biol. Evol., 2012, vol. 29, no. 4, pp. 1255–1261. https://doi.org/10.1093/molbev/msr290

11. Lin, M. and Trejaut, J.A., Diversity and distribution of mitochondrial DNA in non-Austronesian-speaking Taiwanese individuals, Hum. Genome Var., 2023, vol. 10, no. 1, p. 2. https://doi.org/10.1038/s41439-022-00228-3

12. Zheng, H.-X., Yan, Sh., Qin, Z.-D., et al., Major population expansion of East Asians began before neolithic time: evidence of mtDNA genomes, PLoS One, 2011, vol. 6, no. 10, p. e25835. https://doi.org/10.1371/journal.pone.0025835

13. Li, Y.-C., Ye, W.-J., Jiang, C.-G., et al., River valleys shaped the maternal genetic landscape of Han Chinese, Mol. Biol. Evol., 2019, vol. 36, no. 8, pp. 1643–1652. https://doi.org/10.1093/molbev/msz072

14. Wang, C.-Z., Yu, X.-E., Shi, M.-S., et al., Whole mitochondrial genome analysis of the Daur ethnic minority from Hulunbuir in the Inner Mongolia Autonomous Region of China, BMC Ecol. Evol., 2022, vol. 22, p. 66. https://doi.org/10.1186/s12862-022-02019-4

15. Tanaka, M., Cabrera, V.M., González, A.M., et al., Mitochondrial genome variation in Eastern Asia and the peopling of Japan, Genome Res., 2004, vol. 14, no. 10a, pp. 1832–1850. https://doi.org/10.1101/gr.2286304

16. Yamamoto, K., Sakaue, S., Matsuda, K., et al., Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population, Commun. Biol., 2020, vol. 3, no. 1, p. 104. https://doi.org/10.1038/s42003-020-0812-9

17. Duong, N.T., Macholdt, E., Ton, N.D., et al., Complete human mtDNA genome sequences from Vietnam and the phylogeography of Mainland Southeast Asia, Sci. Rep., 2018, vol. 8, no. 1, p. 11651. https://doi.org/10.1038/s41598-018-29989-0

18. Kutanan, W., Shoocongdej, R., Srikummool, M., et al., Cultural variation impacts paternal and maternal genetic lineages of the Hmong-Mien and Sino-Tibetan groups from Thailand, Eur. J. Hum. Genet., 2020, vol. 28, no. 11, pp. 1563–1579. https://doi.org/10.1038/s41431-020-0693-x

19. Kutanan, W., Kampuansai, J., Brunelli, A., et al., New insights from Thailand into the maternal genetic history of Mainland Southeast Asia, Eur. J. Hum. Genet., 2018, vol. 26, no. 6, pp. 898–911. https://doi.org/10.1038/s41431-018-0113-7

20. Kutanan, W., Kampuansai, J., Srikummool, M., et al., Complete mitochondrial genomes of Thai and Lao populations indicate an ancient origin of Austroasiatic groups and demic diffusion in the spread of Tai–Kadai languages, Hum. Genet., 2017, vol. 136, no. 1, pp. 85–98. https://doi.org/10.1007/s00439-016-1742-y

21. Jaisamut, K., Pitiwararom, R., Sukawutthiya, P., et al., Unraveling the mitochondrial phylogenetic landscape of Thailand reveals complex admixture and demographic dynamics, Sci. Rep., 2023, vol. 13, no. 1, p. 20396. https://doi.org/10.1038/s41598-023-47762-w

22. Summerer, M., Horst, J., Erhart, G., et al., Large-scale mitochondrial DNA analysis in Southeast Asia reveals evolutionary effects of cultural isolation in the multi-ethnic population of Myanmar, BMC Evol. Biol., 2014, vol. 28, no. 14, p. 17. https://doi.org/10.1186/1471-2148-14-17

23. Bodner, M., Perego, U.A., Gomez, J.E., et al., The mitochondrial DNA landscape of modern Mexico, Genes (Basel), 2021, vol. 12, no. 9, p. 1453. https://doi.org/10.3390/genes12091453

24. Simão, F., Strobl, Ch., Vullo, C., et al., The maternal inheritance of Alto Paraná revealed by full mitogenome sequences, Forensic Sci. Int. Genet., 2019, vol. 39, pp. 66–72. https://doi.org/10.1016/j.fsigen.2018.12.007

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