Genetic mutations in non-syndromic deafness patients of uyghur and han chinese ethnicities in xinjiang, China: A comparative study

Journal of Translational Medicine

Volumn 9, Issue 1, 2011, Pages

  Chen, Yu ^a   Tudi, Mayila ^b   Sun, Jie ^a   He, Chao ^a   Lu, Hong Li ^c   Shang, Qing ^c   Jiang, Di ^c   Kuyaxi, Pilidong ^a   Hu, Bin ^a   Zhang, Hua ^a  

^a XINJIANG MEDICAL UNIVERSITY   (China)

^b First People's Hospital   (China)

^c NATIONAL ENGINEERING RESEARCH CENTER FOR BEIJING BIOCHIP TECHNOLOGY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHILD; CHINESE; CONTROLLED STUDY; DNA MICROARRAY; DNA SEQUENCE; ETHNIC DIFFERENCE; FAMILY HISTORY; FEMALE; GENE; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GJB2 GENE; GJB3 GENE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MITCHONDRIAL DNA 12S RIBOSOMAL RNA GENE; MUTATION RATE; NONSYNDROMIC DEAFNESS; PERCEPTION DEAFNESS; PRESCHOOL CHILD; SCHOOL CHILD; SLC26A4 GENE; ADOLESCENT; ASIAN; CASE CONTROL STUDY; CHINA; COMPARATIVE STUDY; ETHNIC GROUP; ETHNOLOGY; GENETIC PREDISPOSITION; GENETICS; HEARING IMPAIRMENT; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PREVALENCE;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHINA; DEAFNESS; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; FEMALE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PREVALENCE; YOUNG ADULT;

EID: 80052835333     PISSN: None     EISSN: 14795876     Source Type: Journal    
DOI: 10.1186/1479-5876-9-154     Document Type: Article

References (38)

1. Morton CC, Nance WE. Newborn hearing screening-a silent revolution. N Engl J Med 2006, 354:2151-2164. 10.1056/NEJMra050700, 16707752.
2. Smith RJ, Bale JF, White KR. Sensorineural hearing loss in children. Lancet 2005, 365:879-890. 10.1016/S0140-6736(05)71047-3, 15752533.
3. Resendes BL, Williamson RE, Morton CC. At the speed of sound: gene discovery in the auditory system. Am J Hum Genet 2001, 69:923-935. 10.1086/324122, 1274369, 11577373.
4. Liu XZ, Xia XJ, Ke XM, Ouyang XM, Du LL, Liu YH, Angeli S, Telischi FF, Nance WE, Balkany T, Xu LR. The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum Genet 2002, 111:394-397. 10.1007/s00439-002-0811-6, 12384781.
5. Usami S, Wagatsuma M, Fukuoka H, Suzuki H, Tsukada K, Nishio S, Takumi Y, Abe S. The responsible genes in Japanese deafness patients and clinical application using Invader assay. Acta Otolaryngol 2008, 128:446-454. 10.1080/00016480701785046, 18368581.
6. Ohtsuka A, Yuge I, Kimura S, Namba A, Abe S, Van Laer L, Van Camp G, Usami S. GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum Genet 2003, 112:329-333.
7. Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, et al. GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 2005, 77:945-957. 10.1086/497996, 1285178, 16380907.
8. Kenneson A, Van Naarden Braun K, Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 2002, 4:258-274. 10.1097/00125817-200207000-00004, 12172392.
9. Dai P, Liu X, Han D, Qian Y, Huang D, Yuan H, Li W, Yu F, Zhang R, Lin H, He Y, Yu Y, Sun Q, Qin H, Li R, Zhang X, Kang D, Cao J, Young WY, Guan MX. 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.
10. Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, Bai Y, Young WY, Guan MX. Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet 2004, 74:139-152. 10.1086/381133, 1181901, 14681830.
11. Li Z, Li R, Chen J, Liao Z, Zhu Y, Qian Y, Xiong S, Heman-Ackah S, Wu J, Choo DI, Guan MX. 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.
12. Abe S, Yamaguchi T, Usami S. Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay. Genet Test 2007, 11:333-340. 10.1089/gte.2007.0002, 17949297.
13. Dai P, Yu F, Han B, Wu H, Yuan YY, Li Q, Wang GJ, Liu X, He J, Huang DL, Kang DY, Zhang X, Yuan HJ, Leejun CW, Han DY. Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2007, 42:804-808.
14. Wang QJ, Zhao YL, Rao SQ, Guo YF, Yuan H, Zong L, Guan J, Xu BC, Wang DY, Han MK, Lan L, Zhai SQ, Shen Y. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin Genet 2007, 72:245-254. 10.1111/j.1399-0004.2007.00862.x, 17718863.
15. Dai P, Li Q, Huang D, Yuan Y, Kang D, Miller DT, Shao H, Zhu Q, He J, Yu F, Liu X, Han B, Yuan H, Platt OS, Han D, Wu BL. SLC26A4 c.919-2A > G varies among Chinese ethnic groups as a cause of hearing loss. Genet Med 2008, 10:586-592. 10.1097/GIM.0b013e31817d2ef1, 18641518.
16. Li CX, Pan Q, Guo YG, Li Y, Gao HF, Zhang D, Hu H, Xing WL, Mitchelson K, Xia K, Dai P, Cheng J. Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening. Hum Mutat 2008, 29:306-314. 10.1002/humu.20622, 18161878.
17. Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ. Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet 2000, 37:41-43. 10.1136/jmg.37.1.41, 1734448, 10633133.
18. Dai P, Yu F, Han B, Liu X, Wang G, Li Q, Yuan Y, Liu X, Huang D, Kang D, Zhang X, Yuan H, Yao K, Hao J, He J, He Y, Wang Y, Ye Q, Yu Y, Lin H, Liu L, Deng W, Zhu X, You Y, Cui J, Hou N, Xu X, Zhang J, Tang L, Song R, et al. GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. J Transl Med 2009, 7:26. 10.1186/1479-5876-7-26, 2679712, 19366456.
19. Yan D, Park HJ, Ouyang XM, Pandya A, Doi K, Erdenetungalag R, Du LL, Matsushiro N, Nance WE, Griffith AJ, Liu XZ. Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. Hum Genet 2003, 114:44-50. 10.1007/s00439-003-1018-1, 14505035.
20. Xiao ZA, Xie DH. GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation. Chin Med J (Engl) 2004, 117:1797-1801.
21. Dai P, Yu F, Han B, Yuan Y, Li Q, Wang G, Liu X, He J, Huang D, Kang D, Zhang X, Yuan H, Schmitt E, Han D, Wong LJ. The prevalence of the 235delC GJB2 mutation in a Chinese deaf population. Genet Med 2007, 9:283-289. 10.1097/GIM.0b013e31804d2371, 17505205.
22. Gasparini P, Rabionet R, Barbujani G, Melçhionda S, Petersen M, Brøndum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet 2000, 8:19-23. 10.1038/sj.ejhg.5200406, 10713883.
23. Abidi O, Boulouiz R, Nahili H, Ridal M, Alami MN, Tlili A, Rouba H, Masmoudi S, Chafik A, Hassar M, Barakat A. GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation. Int J Pediatr Otorhinolaryngol 2007, 71:1239-1245. 10.1016/j.ijporl.2007.04.019, 17553572.
24. Li Q, Dai P, Huang DL, Zhang J, Wang GJ, Zhu QW, Liu X, Han DY. Prevalence of GJB2 mutations in Uigur and Han ethnic populations with deafness in Xinjiang region of China. Zhonghua Yi Xue Za Zhi 2007, 87:2977-2981.
25. Hilgert N, Smith RJ, Van Camp G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?. Mutat Res 2009, 681:189-196. 10.1016/j.mrrev.2008.08.002, 2847850, 18804553.
26. Dai P, Yuan Y, Huang D, Zhu X, Yu F, Kang D, Yuan H, Wu B, Han D, Wong LJ. Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. J Transl Med 2008, 6:74. 10.1186/1479-5876-6-74, 2630943, 19040761.
27. Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 2003, 40:242-248. 10.1136/jmg.40.4.242, 1735432, 12676893.
28. Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet 2003, 11:916-922. 10.1038/sj.ejhg.5201073, 14508505.
29. Guo YF, Liu XW, Guan J, Han MK, Wang DY, Zhao YL, Rao SQ, Wang QJ. GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects. Acta Otolaryngol 2008, 128:297-303. 10.1080/00016480701767382, 18274916.
30. Li Q, Dai P, Huang DL, Yuan YY, Zhu QW, Han B, Liu X, Yu F, Kang DY, Zhang X, Xue DD, Jin ZC. Frequency of SLC26A4 IVS7-2A > G mutation in patients with severe to profound hearing loss from different area and ethnic group in China. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2007, 42:893-897.
31. Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Pharmacogenomics 2005, 6:27-36. 10.1517/14622416.6.1.27, 15723603.
32. Tang X, Yang L, Zhu Y, Liao Z, Wang J, Qian Y, Tao Z, Hu L, Wu G, Lan J, Wang X, Ji J, Wu J, Ji Y, Feng J, Chen J, Li Z, Zhang X, Lu J, Guan MX. 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.
33. Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, Rotter JI, Shohat M, Fischel-Ghodsian N. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993, 4:289-294. 10.1038/ng0793-289, 7689389.
34. Estivill X, Govea N, Barceló E, Badenas C, Romero E, Moral L, Scozzri R, D'Urbano L, Zeviani M, Torroni A. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 1998, 62:27-35. 10.1086/301676, 1376822, 9490575.
35. Usami S, Abe S, Akita J, Namba A, Shinkawa H, Ishii M, Iwasaki S, Hoshino T, Ito J, Doi K, Kubo T, Nakagawa T, Komiyama S, Tono T, Komune S. Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet 2000, 37:38-40. 10.1136/jmg.37.1.38, 1734443, 10633132.
36. Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet 1998, 20:370-373. 10.1038/3845, 9843210.
37. Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP, Nance WE. Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet 2000, 9:63-67. 10.1093/hmg/9.1.63, 10587579.
38. Frei K, Ramsebner R, Hamader G, Lucas T, Schoefer C, Baumgartner WD, Wachtler FJ, Kirschhofer K. Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria. Hear Res 2004, 194:81-86. 10.1016/j.heares.2004.03.007, 15276679.