Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China

Journal of Translational Medicine

Volumn 11, Issue 1, 2013, Pages

  Wei, Qinjun ^a   Wang, Shuai ^a   Yao, Jun ^a   Lu, Yajie ^a   Chen, Zhibin ^b   Xing, Guangqian ^b   Cao, Xin ^a  

^a NANJING MEDICAL UNIVERSITY   (China)

^b THE FIRST AFFILIATED HOSPITAL OF NANJING MEDICAL UNIVERSITY   (China)

Author keywords

Gene mutation; GJB2; Mitochondrial 12S rRNA; Nonsyndromic hearing loss

Indexed keywords

CONNEXIN 26; MITOCHONDRIAL DNA; RNA 12S;

12S RRNA GENE; ADOLESCENT; ADULT; ARTICLE; CHILD; CHINA; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GJB2 GENE; HEARING IMPAIRMENT; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; NONSYNDROMIC HEARING LOSS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; RNA STRUCTURE; SCHOOL CHILD;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHINA; CONNEXINS; DEAFNESS; DNA, MITOCHONDRIAL; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA; MUTATION; NUCLEIC ACID CONFORMATION; PHYLOGENY; RNA, MESSENGER; RNA, RIBOSOMAL; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84879821831     PISSN: None     EISSN: 14795876     Source Type: Journal    
DOI: 10.1186/1479-5876-11-163     Document Type: Article

References (32)

1. Cohen MM, Gorlin RJ. Epidemiology, etiology and genetic patterns. In hereditary hearing loss and its syndromes. Origins of Oxford monographs on medical genetics, No 28 1995, 9-21. New York: Oxford University Press, Gorlin RJ, Toriello HV, Cohen MM.
2. Bitner-Glindzicz M. Hereditary deafness and phenotyping in humans. Br Med Bull 2002, 63:73-94. 10.1093/bmb/63.1.73, 12324385.
3. Hereditary Hearing Loss [http://hereditaryhearingloss.org].
4. Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998, 351:394-398. 10.1016/S0140-6736(97)11124-2, 9482292.
5. Rabionet R, Zelante L, Lopez-Bigas N, et al. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet 2000, 106:40-44. 10.1007/s004390051007, 10982180.
6. Wilcox SA, Saunders K, Osborn AH, et al. High frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genet 2000, 106:399-405. 10.1007/s004390000273, 10830906.
7. Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Pharmacogenomics 2005, 6(1):27-36. 10.1517/14622416.6.1.27, 15723603.
8. Guan MX. Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. Mitochondrion 2011, 11:237-245. 10.1016/j.mito.2010.10.006, 21047563.
9. Yu F, Han DY, Dai P, et al. Mutation of GJB2 gene in Chinese nonsyndromic hearing impairment patients: analysis of 1190 cases. Natl Med J China 2007, 87:2814-2819.
10. Dai P, Yu F, Han B, et al. GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment. J Transl Med 2009, 7:1-12. 10.1186/1479-5876-7-1, 2627828, 19123955.
11. Yuan Y, Yu F, Wang G, et al. Prevalence of the GJB2 IVS1 + 1G > A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2. J Transl Med 2010, 8:127. 10.1186/1479-5876-8-127, 3014891, 21122151.
12. Wang QJ, Zhao YL, Rao SQ, et al. Newborn hearing concurrent gene screening can improve care for hearing loss: a study on 14,913 Chinese newborns. Int J Pediatr Otorhinolaryngol 2011, 75:535-542. 10.1016/j.ijporl.2011.01.016, 21329993.
13. Li Z, Li R, Chen J, et al. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss. Hum Genet 2005, 117:9-15. 10.1007/s00439-005-1276-1, 1484504, 15841390.
14. Dai P, Liu X, Han D, et al. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: Implication for early detection and prevention of deafness. Biochem Biophys Res Commun 2006, 340:194-199. 10.1016/j.bbrc.2005.11.156, 16375862.
15. 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, 10:380-390. 10.1016/j.mito.2010.01.007, 2874659, 20100600.
16. Uppsala mtDB database http://www.genpat.uu.se/mtDB/.
17. Tu ZJ, Kiang DT. Mapping and characterization of the basal promoter of the human connexin26 gene. Biochim Biophys Acta 1998, 1443:169-181. 10.1016/S0167-4781(98)00212-7, 9838096.
18. Brobby GW, Muller-Myhsok B, Horstmann RD. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med 1998, 338:548-550.
19. Sun Q, Yuan HJ, Liu X, et al. Mutation analysis of GJB2 in Chinese population with DFNA. Chin Arch Otolaryngol Head Neck Surg 2008, 11:625-627.
20. Tóth T, Kupka S, Haack B, et al. Coincidence of mutations in different connexin genes in Hungarian patients. Int J Mol Med 2007, 20(3):315-321.
21. Reinhard R, Trevor L, Christian S, et al. Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria. Otol Neurotol 2007, 28:884-886. 10.1097/MAO.0b013e3181461b26, 17955603.
22. Kelley PM, Abe S, Askew JW, et al. Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12. Genomics 1999, 62:172-176. 10.1006/geno.1999.6002, 10610709.
23. Del Castillo FJ, Rodríguez-Ballesteros M, Alvarez A, et al. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet 2005, 42:588-594. 10.1136/jmg.2004.028324, 1736094, 15994881.
24. Sirmaci A, Akcayoz-Duman D, Tekin M. The c.IVS1 + 1G > A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population. J Genet 2006, 85(3):213-216. 10.1007/BF02935334, 17406097.
25. Neocleous V, Aspris A, Shahpenterian V, et al. High Frequency of 35delG Mutation and Absence of del(GJB6-D13S1830) in Greek Cypriot Patients with Nonsyndromic Hearing Loss. Genet Test 2006, 10:285-289. 10.1089/gte.2006.10.285, 17253936.
26. Dai P, Yu F, Han B, et al. The prevalence of the 235delC GJB2 Mutation in a Chinese Deaf Population. Genet Med 2007, 9:283-289. 10.1097/GIM.0b013e31804d2371, 17505205.
27. Del Castillo FJ, Rodriguez-Ballesteros M, Martin Y, et al. Heteroplasmy for the 1555A > G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. J Med Genet 2003, 40:632-636. 10.1136/jmg.40.8.632, 1735559, 12920080.
28. 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, 9(6):418-428. 10.1016/j.mito.2009.07.006, 19682603.
29. Dai D, Lu Y, Chen Z, et al. Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss. Biochem Biophys Res Commun 2008, 377(4):1152-1155. 10.1016/j.bbrc.2008.10.132, 18983818.
30. Xing G, Chen Z, Wei Q, et al. Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity. Biochem Biophys Res Commun 2006, 346(4):1131-1135. 10.1016/j.bbrc.2006.05.208, 16782057.
31. Bacino C, Prezant TR, Bu X, et al. Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. Pharmacogenetics 1995, 5:165-172. 10.1097/00008571-199506000-00005, 7550368.
32. Tang X, Yang L, Zhu Y, et al. Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. Gene 2007, 393:11-19. 10.1016/j.gene.2007.01.001, 17341440.