GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

Journal of Translational Medicine

Volumn 7, Issue , 2009, Pages

  Dai, Pu ^a   Yu, Fei ^a   Han, Bing ^a   Liu, Xuezhong ^c   Wang, Guojian ^a   Li, Qi ^a   Yuan, Yongyi ^a   Liu, Xin ^a   Huang, Deliang ^a   Kang, Dongyang ^a   Zhang, Xin ^a   Yuan, Huijun ^a   Yao, Kun ^d   Hao, Jinsheng ^e   He, Jia ^f   He, Yong ^g   Wang, Youqin ^h   Ye, Qing ^h   Yu, Youjun ⁱ   Lin, Hongyan ^j   Liu, Lijia ^k   Deng, Wei ^l   Zhu, Xiuhui ^m   You, Yiwen ⁿ   Cui, Jinghong ⁿ   Hou, Nongsheng ^o   Xu, Xuehai ^p   Zhang, Jin ^q   Tang, Liang ^q   Song, Rendong ^r   Lin, Yongjun ^r   Sun, Shuanzhu ^s   Zhang, Ruining ^t   Wu, Hao ^u   Ma, Yuebing ^v   Zhu, Shanxiang ^a   Wu, Bai Lin ^w   Han, Dongyi ^a   Wong, Lee Jun C ^b   more..

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^d Fuyang People's Hospital   (China)

^e CAPITAL MEDICAL UNIVERSITY   (China)

^f SECOND MILITARY MEDICAL UNIVERSITY   (China)

^g Department of Otolaryngology   (China)

^h GUIZHOU PROVINCIAL PEOPLE'S HOSPITAL   (China)

ⁱ THE FIRST PEOPLE S HOSPITAL OF FOSHAN   (China)

^j Anyang Tumor Hospital   (China)

^k Mudanjiang University   (China)

^l The 161st Hospital of PLA   (China)

^m Chifeng Second People's Hospital   (China)

ⁿ NANTONG UNIVERSITY   (China)

^o BEIHUA UNIVERSITY   (China)

^p LANZHOU GENERAL HOSPITAL   (China)

^q People's Hospital   (China)

^r Zhuozhou Second Central Hospital   (China)

^s Datong Second People's Hospital   (China)

^t Central Hospital of Yuncheng   (China)

^u SHANGHAI JIAO TONG UNIVERSITY   (China)

^v Department of Otolaryngology   (China)

^w BOSTON CHILDREN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINESE; CONTROLLED STUDY; ETHNIC DIFFERENCE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HEARING IMPAIRMENT; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NONSYNDROMIC HEARING IMPAIRMENT; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; ALGORITHM; ASIAN; CHINA; GENE EXPRESSION REGULATION; GENETICS; HEARING DISORDER; IMMUNOHISTOCHEMISTRY; MUTATION; PATHOLOGY;

ALGORITHMS; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CONNEXINS; GENE EXPRESSION REGULATION; HEARING DISORDERS; HUMANS; IMMUNOHISTOCHEMISTRY; MUTATION;

EID: 65649116240     PISSN: None     EISSN: 14795876     Source Type: Journal    
DOI: 10.1186/1479-5876-7-26     Document Type: Article

References (42)

1. Cohen MM Gorlin RJ Epidemiology, etiology and genetic patterns Hereditary hearing loss and its syndromes Oxford: Academic Press Gorlin RJ, Toriello HV, Cohen MM 1995:9-21.
2. Downs MP Universal newborn hearing screening - the Colorado story Int J Pediatr Otorhinolaryngol 1995, 32:257-259. 10.1016/0165-5876(95)01183-C 7665273
3. Mehl AL Thomson V Newborn hearing screening: The great omission Pediatrics 1998, 101:E4.23. 10.1542/peds.101.1.e4
4. Mehl AL Thomson V The Colorado newborn hearing screening project, 1992-1999: On the threshold of effective population-based universal newborn hearing screening Pediatrics 2002, 109:E7. 10.1542/peds.109.1.e7 11773575
5. Bitner-Glindzicz M Hereditary deafness and phenotyping in humans Br Med Bull 2002, 63:73-94. 10.1093/bmb/63.1.73 12324385
6. Estivill X Fortina P Surrey S Rabionet R Melchionda S D'Agruma L Connexin-26 mutations in sporadic and inherited sensorineural deafness Lancet 1998, 351:394-398. 10.1016/S0140-6736(97)11124-2 9482292
7. Gabriel H Kupsch P Sudendey J Winterhager E Jahnke K Lautermann J Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population Hum Mutat 2001, 17:521-522. 10.1002/humu.1138 11385713
8. Lench N Houseman M Newton V Van Camp G Mueller R Connexin-26 mutations in sporadic non-syndromal sensorineural deafness Lancet 1998, 351:415. 10.1016/S0140-6736(98)24006-2 9482297
9. Morell RJ Kim HJ Hood LJ Goforth L Friderici K Fisher R Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness N Engl J Med 1998, 339:1500-1505. 10.1056/NEJM199811193392103 9819448
10. Ohtsuka A Yuge I Kimura S Namba A Abe S Van Laer L GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation Hum Genet 2003, 112:329-333. 12560944
11. Park HJ Hahn SH Chun YM Park K Kim HN Connexin26 mutations associated with nonsyndromic hearing loss Laryngoscope 2000, 110:1535-1538. 10.1097/ 00005537-200009000-00023 10983956
12. Rabionet R Zelante L Lopez-Bigas N D'Agruma L Melchionda S Restagno G Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene Hum Genet 2000, 106:40-44. 10.1007/s004390051007 10982180
13. Wilcox SA Saunders K Osborn AH Arnold A Wunderlich J Kelly T High frequency hearing loss correlated with mutations in the GJB2 gene Hum Genet 2000, 106:399-405. 10.1007/s004390000273 10830906
14. Denoyelle F Lina-Granade G Plauchu H Bruzzone R Chaib H Levi-Acobas F Connexin 26 gene linked to a dominant deafness Nature 1998, 393:319-320. 10.1038/30639 9620796
15. Richard G White TW Smith LE Bailey RA Compton JG Paul DL Bale SJ Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma Hum Genet 1998, 103:393-399. 10.1007/s004390050839 9856479
16. Yuan Y Huang D Yu F Zhu X Kang D Yuan H Han D Dai P A De Novo GJB2 (Connexin 26) Mutation, R75W, in a Chinese Pedigree With Hearing Loss and Palmoplantar Keratoderma Am J Med Genet 2008.
17. Goodenough DA Goliger JA Paul DL Connexins, connexons, and intercellular communication Annu Rev Biochem 1996, 65:475-502. 10.1146/ annurev.bi.65.070196.002355 8811187
18. Kumar NM Gilula NB The gap junction communication channel Cell 1996, 84:381-388. 10.1016/S0092-8674(00)81282-9 8608591
19. Bruzzone R White TW Paul DL Connections with connexins: The molecular basis of direct intercellular signaling Eur J Biochem 1996, 238:1-27. 10.1111/j.1432-1033.1996.0001q.x 8665925
20. Scott DA Kraft ML Carmi R Ramesh A Elbedour K Yairi Y Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss Hum Mutat 1998, 11:387-394. 10.1002/ (SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8 9600457
21. Del Castillo I Villamar M Moreno-Pelayo MA del Castillo FJ Alvarez A Tellería D A deletion involving the connexin 30 gene in nonsyndromic hearing impairment N Engl J Med 2002, 346(4):243-249. 10.1056/NEJMoa012052 11807148
22. Del Castillo I Moreno-Pelayo MA Del Castillo FJ Brownstein Z Marlin S Adina Q Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: A multicenter study Am J Hum Genet 2003, 73(6):1452-1458. Epub 2003 Oct 21. 1180408 14571368 10.1086/380205
23. Kelsell DP Dunlop J Stevens HP Lench NJ Liang JN Parry G Mueller RF Connexin 26 mutations in hereditary non-syndromic sensorineural deafness Nature 1997, 387:80-83. 10.1038/387080a0 9139825
24. 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. 1734448 10633133 10.1136/jmg.37.1.41
25. Ballana E Morales E Rabionet R Montserrat B Ventayol M Bravo O Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment Biochem Biophys Res Commun 2006, 341:950-957. 10.1016/j.bbrc.2006.01.049 16458854
26. Roux AF Pallares-Ruiz N Vielle A Faugere V Templin C Leprevost D Molecular epidemiology of DFNB1 deafness in France BMC Med Genet 2004, 5:5. 385234 15070423 10.1186/1471-2350-5-5
27. Dai P Liu X Yu F Zhu QW Yuan YY Yang SZ Molecular etiology of patients with nonsyndromic hearing loss from deaf-muta schools in 18 provinces of China Chin J Otol 2006, 4:1-5.
28. Dai P Yu F Han B Yuan YY Li Q Wang GJ The prevalence of the 235delC GJB2 Mutation in a Chinese Deaf Population Genet Med 2007, 9:283-289. 17505205
29. Tang HY Fang P Ward PA Schmitt E Darilek S Manolidis S DNA sequence analysis of GJB2, encoding connexin 26: Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls Am J Med Genet A 2006, 140:2401-2415. 17041943
30. Hwa HL Ko TM Hsu CJ Huang CH Chiang YL Oong JL Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness Genet Med 2003, 5:161-165. 12792423
31. Bason L Dudley T Lewis K Shah U Potsic W Ferraris A Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss Clin Genet 2002, 61:459-464. 10.1034/ j.1399-0004.2002.610611.x 12121355
32. Cryns K Orzan E Murgia A Huygen PL Moreno F del Castillo I A genotype-phenotype correlation for GJB2 (connexin 26) deafness J Med Genet 2004, 41:147-154. 1735685 14985372 10.1136/jmg.2003.013896
33. Shi GZ Gong LX Xu XH Nie WY Lin Q Qi YS GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China Hear Res 2004, 197:19-23. 10.1016/j.heares.2004.06.012 15504600
34. Wang YC Kung CY Su MC Su CC Hsu HM Tsai CC Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan Eur J Hum Genet 2002, 10:495-498. 10.1038/sj.ejhg.5200838 12111646
35. Pollak A Mueller-Malesinska M Skórka A Kostrzewa G Odak M Korniszewski L GJB2 and hearing impairment: Promoter defects do not explain the excess of monoallelic mutations J Med Genet 2008, 45(9):607-608. 10.1136/jmg.2008.059873 18762573
36. Liu XZ Yuan Y Yan D Ding EH Ouyang XM Fei Y Tang W Yuan H Chang Q Du LL Zhang X Wang G Ahmad S Kang DY Lin X Dai P Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31 Hum Genet 2009, 25(1):53-63. 10.1007/s00439-008-0602-9
37. Snoeckx RL Huygen PL Feldmann D Marlin S Denoyelle F Waligora J GJB2 mutations and degree of hearing loss: A multicenter study Am J Hum Genet 2005, 77:945-957. 1285178 16380907 10.1086/497996
38. Wu BL Lindeman N Lip V Adams A Amato RS Cox G Effectiveness of sequencing connexin 26(GJB2) in familial or sporadic childhood deafness referred for molecular diagnostic testing Genet Med 2002, 4:279-288. 12172394
39. Dai P Yuan Y Huang D Zhu X Yu F Kang D Molecular Etiology of Hearing Impairment in Inner Mongolia: Mutations in SLC26A4 gene and relevant phenotype analysis J Transl Med 2008, 6:74. 2630943 19040761 10.1186/ 1479-5876-6-74
40. Dai P Li Q Huang D Yuan Y Kang D Miller DT SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss Genet Med 2008, 10:586-592. 18641518
41. Dai P Liu X Han D Qian Y Huang D Yuan H 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(1):194-199. 10.1016/ j.bbrc.2005.11.156 16375862
42. Li CX Pan Q Guo YG Li Y Gao HF Zhang D Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening Hum Mutat 2008, 29(2):306-314. 10.1002/humu.20622 18161878