Determination of the carrier frequencies of selected GJB2 mutations in the Korean population

International Journal of Audiology

Volumn 50, Issue 10, 2011, Pages 694-698

  Kim, Shin Young ^a   Lee, Bom Yi ^a   Lim, Ji Hyae ^a   Ryu, Hyun Mee ^b   Yang, Jae Hyug ^b   Chung, Jin Hoon ^b   Han, Ho Won ^b   Park, So Yeon ^a  

^a Cheil General Hospital   (South Korea)

^b Kwandong University College of Medicine   (South Korea)

Author keywords

Carrier frequency; GJB2 gene; Hereditary hearing loss; Korean; Mutation

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN;

ADULT; ARTICLE; ASIAN; ETHNOLOGY; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; HEARING LOSS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; QUESTIONNAIRE; SOUTH KOREA;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; QUESTIONNAIRES; REPUBLIC OF KOREA;

EID: 80052912500     PISSN: 14992027     EISSN: 17088186     Source Type: Journal    
DOI: 10.3109/14992027.2011.563247     Document Type: Article

References (35)

1. Abe S., Usami S., Shinkawa H., Kelley P.M. & Kimberling W.J. 2000. Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet , 37, 41-43. (Pubitemid 30245873)
2. Bason L., Dudley T., Lewis K., Shah U., Potsic W. et al. 2002. Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss. Clin Genet , 61, 459-464. (Pubitemid 36372685)
3. Brobby G.W., Müller-Myhsok B. & Horstmann R.D. 1998. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med , 338, 548-550. (Pubitemid 28103143)
4. Bruzzone R., Veronesi V., Gomès D., Bicego M., Duval N. et al. 2003. Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness. FEBS Lett , 533, 79-88. (Pubitemid 36206386)
5. Cama E., Melchionda S., Palladino T., Carella M., Santarelli R. et al. 2009. Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort. Int J Audiol , 48(1), 12-17.
6. Cryns K., Orzan E., Murgia A., Huygen P.L., Moreno F. et al. 2004. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet , 41, 147-154. (Pubitemid 38337439)
7. Denoyelle F., Weil D., Maw M.A., Wilcox S.A., Lench N.J. et al. 1997. Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet , 6, 2173-2177. (Pubitemid 27477961)
8. Fuse Y., Doi K., Hasegawa T., Sugii A., Hibino H. et al. 1999. Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness. Neuroreport , 10, 1853-1857. (Pubitemid 29331737)
9. Green G.E., Scott D.A., McDonald J.M., Woodworth G.G., Sheffi eld V.C. et al. 1999. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA , 281, 2211-2216. (Pubitemid 29275704)
10. Griffi th A.J., Yang Y., Pryor S.P., Park H.J., Jabs E.W. et al. 2006. Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome. Laryngoscope , 116, 1404-1408. (Pubitemid 44181455)
11. Han S.H., Park H.J., Kang E.J., Ryu J.S., Lee A. et al. 2008. Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population. J Hum Genet , 53, 1022-1028.
12. Huculak C., Bruyere H., Nelson T.N., Kozak F.K. & Langlois S. 2006. V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity. Am J Med Genet A , 140, 2394-2400. (Pubitemid 44684934)
13. Hwa H.L., Ko T.M., Hsu C.J., Huang C.H., Chiang Y.L. et al. 2003. Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness. Genet Med , 5, 161-165.
14. Janecke A.R., Hirst-Stadlmann A., Günther B., Utermann B., Müller T. et al. 2002. Progressive hearing loss and recurrent sudden sensorineural hearing loss associated with GJB2 mutations: Phenotypic spectrum and frequencies of GJB2 mutations in Austria. Hum Genet , 111, 145-153. (Pubitemid 36075032)
15. Kelley P.M., Harris D.J., Comer B.C., Askew J.W., Fowler T. et al. 1998. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet , 62, 792-799. (Pubitemid 28194320)
16. Kelsell D.P., Dunlop J., Stevens H.P., Lench N.J., Liang J.N. et al. 1997. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature , 387, 80-83. (Pubitemid 27202653)
17. Kudo T., Ikeda K., Kure S., Matsubara Y., Oshima T. et al. 2000. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am J Med Genet , 90, 141-145. (Pubitemid 30030567)
18. Kudo T., Ikeda K., Oshima T., Kure S., Tammasaeng M. et al. 2001. GJB2 (connexin 26) mutations and childhood deafness in Thailand. Otol Neurotol , 22, 858-861. (Pubitemid 33101337)
19. Lautermann J., ten Cate W.J., Altenhoff P., Grümmer R., Traub O. et al. 1998. Expression of the gap-junction connexins 26 and 30 in the rat cochlea. Cell Tissue Res , 294, 415-420. (Pubitemid 28510853)
20. Liu X.Z., Xia X.J., Ke X.M., Ouyang X.M., Du L.L. et al. 2002. The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum Genet , 111, 394-397. (Pubitemid 36075066)
21. Liu Y., Ke X., Qi Y., Li W. & Zhu P. 2002. Connexin26 gene (GJB2): Prevalence of mutations in the Chinese population. J Hum Genet , 47, 688-690. (Pubitemid 36083254)
22. Matsushiro N., Doi K., Fuse Y., Nagai K., Yamamoto K. et al. 2002. Successful cochlear implantation in prelingual profound deafness resulting from the common 233delC mutation of the GJB2 gene in the Japanese. Laryngoscope , 112, 255-261. (Pubitemid 34135869)
23. Morell R.J., Kim H.J., Hood L.J., Goforth L., Friderici K. et al. 1998. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med , 339, 1500-1505. (Pubitemid 28543498)
24. Morton N.E. 1991. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci , 630, 16-31.
25. Ohtsuka A., Yuge I., Kimura S., Namba A., Abe S. et al. 2003. GJB2 deafness gene shows a specifi c spectrum of mutations in Japan, including afrequent founder mutation. Hum Genet , 112, 329-333. (Pubitemid 36869059)
26. Palmada M., Schmalisch K., Böhmer C., Schug N., Pfi ster M. et al. 2006. Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment. Neurobiol Dis , 22, 112-118.
27. Park H.J., Hahn S.H., Chun Y.M., Park K. & Kim H.N. 2000. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope , 110, 1535-1538.
28. Pollak A., Skórka A., Mueller-Malesińska M., Kostrzewa G., Kisiel B. et al. 2007. M34T and V37I mutations in GJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance. Am J Med Genet A , 143A, 2534-2543. (Pubitemid 350058165)
29. Schrijver I. & Chang K.W. 2006. Two patients with the V37I/235delC genotype: Are radiographic cochlear anomalies part of the phenotype? Int J Pediatr Otorhinolaryngol , 70, 2109-2113. (Pubitemid 44781039)
30. Shi G.Z., Gong L.X., Xu X.H., Nie W.Y., Lin Q. et al. 2004. GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China. Hear Res , 197, 19-23. (Pubitemid 39410689)
31. Snoeckx R.L., Huygen P.L., Feldmann D., Marlin S., Denoyelle F. et al. 2005. GJB2 mutations and degree of hearing loss: A multicenter study. Am J Hum Genet , 77, 945-957. (Pubitemid 41698516)
32. Sobe T., Vreugde S., Shahin H., Berlin M., Davis N. et al. 2000. The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Hum Genet , 106, 50-57. (Pubitemid 30156394)
33. Wattanasirichaigoon D., Limwongse C., Jariengprasert C., Yenchitsomanus P.T., Tocharoenthanaphol C. et al. 2004. High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearingimpaired and control Thai individuals. Clin Genet , 66, 452-460. (Pubitemid 39429742)
34. Xiao Z.A. & Xie D.H. 2004. GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation. Chin Med J (Engl) , 117, 1797-1801.
35. Yan D., Park H.J., Ouyang X.M., Pandya A., Doi K. et al. 2003. Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. Hum Genet , 114, 44-50. (Pubitemid 38165535)