Associations between GJB2, mitochondrial 12S rRNA, SLC26A4 mutations, and hearing loss among three ethnicities

BioMed Research International

Volumn 2014, Issue , 2014, Pages

  Du, Wan ^a   Wang, Qiuju ^b   Zhu, Yiming ^a   Wang, Yanli ^a   Guo, Yufen ^a,c  

^a LANZHOU UNIVERSITY   (China)

^b CHINESE PLA GENERAL HOSPITAL   (China)

^c Gansu Province Institute of Transportation Survey and Design   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINESE; CONTROLLED STUDY; ETHNIC DIFFERENCE; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GJB2 GENE; HUMAN; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL 12S RRNA GENE; MUTATION RATE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PREVALENCE; SLC26A4 GENE; ASIAN CONTINENTAL ANCESTRY GROUP; ETHNIC GROUP; GENETIC PREDISPOSITION; GENETICS; HEARING IMPAIRMENT; INFANT; MUTATION; PATHOLOGY; PRESCHOOL CHILD;

CARRIER PROTEIN; CONNEXIN 26; GAP JUNCTION PROTEIN; MITOCHONDRIAL DNA; RIBOSOME RNA; RNA, RIBOSOMAL, 12S; SLC26A4 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CONNEXINS; DNA, MITOCHONDRIAL; ETHNIC GROUPS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS; HUMANS; INFANT; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; RNA, RIBOSOMAL;

EID: 84899573424     PISSN: 23146133     EISSN: 23146141     Source Type: Journal    
DOI: 10.1155/2014/746838     Document Type: Article

References (29)

1. Cohen M. M.; Gorlin R. J.; Gorlin R. J.; Toriello H. V.; Cohen M. M.; Epidemiology, etiology and genetic patterns. Hereditary Hearing Loss and Its Syndromes 1995 New York, NY, USA Oxford University Press 9 21
2. Bitner-Glindzicz M.; Hereditary deafness and phenotyping in humans. British Medical Bulletin 2002 63 73 94 2-s2.0-0036396927 10.1093/bmb/63.1.73 (Pubitemid 35175752)
3. Morton C. C.; Nance W. E.; Newborn hearing screening-a silent revolution. The New England Journal of Medicine 2006 354 20 2151 2164 2-s2.0-33646706079 10.1056/NEJMra050700 (Pubitemid 43736615)
4. 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 W.-Y.; Guan M.-X.; Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness. Biochemical and Biophysical Research Communications 2006 340 1 194 199 2-s2.0-29244487525 10.1016/j.bbrc.2005.11.156 (Pubitemid 41827665)
5. Zhao H.; Li R.; Wang Q.; Yan Q.; Deng J.-H.; Han D.; Bai Y.; Young W.-Y.; Guan M.-X.; 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. American Journal of Human Genetics 2004 74 1 139 152 2-s2.0-0347003512 10.1086/381133 (Pubitemid 38085245)
6. Abe S.; Yamaguchi T.; Usami S.-I.; Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay. Genetic Testing 2007 11 3 333 340 2-s2.0-35348954863 10.1089/gte.2007.0002 (Pubitemid 47614395)
7. Dai P.; Yu F.; Han B.; Wu H.; Yuan Y.-Y.; Li Q.; Wang G.-J.; Liu X.; He J.; Huang D.-L.; Kang D.-Y.; Zhang X.; Yuan H.-J.; Leejun C. W.; Han D.-Y.; 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 11 804 808 2-s2.0-73849145094
8. Ohtsuka A.; Yuge I.; Kimura S.; Namba A.; Abe S.; van Laer L.; van Camp G.; Usami S.-I.; GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Human Genetics 2003 112 4 329 333 2-s2.0-0038237455 (Pubitemid 36869059)
9. Hwa H.-L.; Ko T.-M.; Hsu C.-J.; Huang C.-H.; Chiang Y.-L.; Oong J.-L.; Chen C.-C.; Hsu C.-K.; Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deagness. Genetics in Medicine 2003 5 3 161 165 2-s2.0-0041303428 10.1097/01.GIM.0000066796.11916.94 (Pubitemid 36998678)
10. Wang Y.-C.; Kung C.-Y.; Su M.-C.; Su C.-C.; Hsu H.-M.; Tsai C.-C.; Lin C.-C.; Li S.-Y.; Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan. European Journal of Human Genetics 2002 10 8 495 498 2-s2.0-0035991723 10.1038/sj.ejhg.5200838
11. Lee K. Y.; Choi S. Y.; Bae J. W.; Kim S.; Chung K. W.; Drayna D.; Kim U. K.; Lee S. H.; Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients. International Journal of Pediatric Otorhinolaryngology 2008 72 9 1301 1309 2-s2.0-48449103433 10.1016/j.ijporl.2008.05.007
12. Sansović I.; Knezević J.; Musani V.; Seeman P.; Barisić I.; Pavelić J.; GJB2 mutations in patients with nonsyndromic hearing loss from Croatia. Genetic Testing and Molecular Biomarkers 2009 13 5 693 699 2-s2.0-74049118910
13. Abidi O.; Boulouiz R.; Nahili H.; Bakhouch K.; Wakrim L.; Rouba H.; Chafik A.; Hassar M.; Barakat A.; Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population. Genetic Testing 2008 12 4 569 574 2-s2.0-57749093231 10.1089/gte.2008.0063
14. Hutchin T.; Coy N. N.; Conlon H.; Telford E.; Bromelow K.; Blaydon D.; Taylor G.; Coghill E.; Brown S.; Trembath R.; Liu X. Z.; Bitner-Glindzicz M.; Mueller R.; Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK-implications for genetic testing. Clinical Genetics 2005 68 6 506 512 2-s2.0-28644439243 10.1111/j.1399-0004.2005.00539.x (Pubitemid 41748849)
15. Brobby G. W.; Muller-Myhsok B.; Horstmann R. D.; Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. The New England Journal of Medicine 1998 338 8 548 550 2-s2.0-0032546033 10.1056/NEJM199802193380812
16. Dai P.; Yu F.; Han B.; GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. Journal of Translational Medicine 2009 7 26
17. Yan D.; Park H.-J.; Ouyang X. M.; Pandya A.; Doi K.; Erdenetungalag R.; Du L. L.; Matsushiro N.; Nance W. E.; Griffith A. J.; Liu X. Z.; Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. Human Genetics 2003 114 1 44 50 2-s2.0-10744230689 10.1007/s00439-003-1018-1 (Pubitemid 38165535)
18. 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 L.-J.; The prevalence of the 235delC GJB2 mutation in a Chinese deaf population. Genetics in Medicine 2007 9 5 283 289 2-s2.0-34249052925 10.1097/GIM.0b013e31804d2371 (Pubitemid 46788194)
19. Gasparini P.; Rabionet R.; Barbujani G.; Melchionda 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. European Journal of Human Genetics 2000 8 1 19 23 2-s2.0-17544402026 10.1038/sj.ejhg.5200406 (Pubitemid 30113791)
20. Li Q.; Dai P.; Huang D.-L.; Zhang J.; Wang G.-J.; Zhu Q.-W.; Liu X.; Han D.-Y.; Prevalence of GJB2 mutations in Uigur and Han ethnic populations with deafness in Xinjiang region of China. Zhonghua Yi Xue Za Zhi 2007 87 42 2977 2981 2-s2.0-38749125476 (Pubitemid 351175870)
21. 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 M.-X.; Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. Gene 2007 393 1-2 11 19 2-s2.0-34047266817 10.1016/j.gene.2007.01.001 (Pubitemid 46551522)
22. Prezant T. R.; Agapian J. V.; Bohlman M. C.; Bu X.; Oztas S.; Qiu W.-Q.; Arnos K. S.; Cortopassi G. A.; Jaber L.; Rotter J. I.; Shohat M.; Fischel-Ghodsian N.; Mitochondrial ribosomal RNA mutation associated with both antibiotic- induced and non-syndromic deafness. Nature Genetics 1993 4 3 289 294 2-s2.0-0027226069 10.1038/ng0793-289 (Pubitemid 23205179)
23. Yu F.; Dai P.; Han D. Y.; 233-235delC mutation analysis of GJB2 gene in non-syndromic hearing impairment patients from China Archives of Otolaryngology-Head and Neck Surgery 2006 4 223 226
24. Dalamón V.; Lotersztein V.; Béhèran A.; Lipovsek M.; Diamante F.; Pallares N.; Francipane L.; Frechtel G.; Paoli B.; Mansilla E.; Diamante V.; Elgoyhen A. B.; GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired argentinean population. Audiology and Neurotology 2010 15 3 194 202 2-s2.0-77950095765 10.1159/000254487
25. Utrera R.; Ridaura V.; Rodríguez Y.; Rojas M. J.; Mago L.; Angeli S.; Henríquez O.; Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss. Genetic Testing 2007 11 4 347 352 2-s2.0-38149079946 10.1089/gte.2006.0526
26. Li R.; Greinwald J. H. Jr.; Yang L.; Choo D. I.; Wenstrup R. J.; Guan M.-X.; Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss. Journal of Medical Genetics 2004 41 8 615 620 2-s2.0-4043089861 (Pubitemid 39061268)
27. Yao Y.-G.; Kong Q.-P.; Wang C.-Y.; Zhu C.-L.; Zhang Y.-P.; Different matrilineal contributions to genetic structure of ethnic groups in the Silk Road region in China. Molecular Biology and Evolution 2004 21 12 2265 2280 2-s2.0-8444227060 10.1093/molbev/msh238 (Pubitemid 39488897)
28. Dai P.; Yuan Y.; Huang D.; Zhu X.; Yu F.; Kang D.; Yuan H.; Wu B.; Han D.; Wong L.-J. C.; Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. Journal of Translational Medicine 2008 6, article 74 2-s2.0-59349086651 10.1186/1479-5876-6-74
29. Du R.; Xiao C.; Cavalli-Sforza L. L.; Genetic distances between Chinese populations calculated on gene frequencies of 38 loci. Science in China C: Life Sciences 1997 40 6 613 621 2-s2.0-0006714350 (Pubitemid 127489454)