High prevalence of the connexin 26 (GJB2) mutation in chinese cochlear implant recipients

ORL

Volumn 71, Issue 4, 2009, Pages 212-215

  Chen, Dongye ^a   Chen, Xiaowei ^a   Cao, Keli ^a   Zuo, Jin ^b   Jin, Xin ^a   Wei, Caogang ^a   Fang, Fude ^b  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

Author keywords

Chinese; Cochlear implant; Deafness; GJB2 gene; Mutation

Indexed keywords

CONNEXIN 26;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHINESE; CLINICAL TRIAL; COCHLEA PROSTHESIS; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INFANT; INNER EAR MALFORMATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RECIPIENT;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHINA; COCHLEAR IMPLANTS; CODON, NONSENSE; CONNEXINS; DEAFNESS; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; PREVALENCE;

EID: 69549086554     PISSN: 03011569     EISSN: None     Source Type: Journal    
DOI: 10.1159/000229300     Document Type: Article

References (15)

1. Morton NE: Genetic epidemiology of hearing impairment. Ann NY Acad Sci 1991;630:16-31.
2. Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ: Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998;62:792-799. (Pubitemid 28194320)
3. Hereditary Hearing Loss Homepage. http://webh01.ua.ac.be/hhh.
4. Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Mila M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P: Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997;6:1605-1609. (Pubitemid 27397040)
5. Van Camp G, Willems P, Smith RJH: Non-syndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet 1997;60:758-764. (Pubitemid 27146483)
6. Murgia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E, Arslan E, Zacchello F: Cx26 deafness: mutation analysis and clinical variability. J Med Genet 1999;36:829-832. (Pubitemid 29520572)
7. Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, Van Camp G, Berlin CI, Oddoux C, Ostrer H, Keats B, Friedman TB: Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998;339:1500-1505. (Pubitemid 28543498)
8. 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. (Pubitemid 30245873)
9. 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. (Pubitemid 36075066)
10. Liu Y, Ke X, Qi Y, Li W, Zhu P: Connexin 26 gene (GJB2): prevalence of mutations in the Chinese population. J Hum Genet 2002;47:688-690. (Pubitemid 36083254)
11. Brobby GW, Müller-Myhsok B, Horstmann RD: Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med 1998;338:548-549. (Pubitemid 28103143)
12. Van Laer L, Coucke P, Mueller RF, Caethoven G, Flothmann K, Prasad SD, Chamberlin GP, Houseman M, Taylor GR, Van de Heyning CM, Fransen E, Rowland J, Cucci RA, Smith RJH, Van Camp G: A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet 2001;38:515-518. (Pubitemid 32751579)
13. Bauer PW, Geers AE, Brenner C, Moog JS, Smith RJ: The effect of GJB2 allele variants on performance after cochlear implantation. Laryngoscope 2003;113:2135-2140. (Pubitemid 38063835)
14. 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. (Pubitemid 30245873)
15. Sinnathuray AR, Toner JG, Clarke-Lyttle J, Patterson CC, Hughes AE: Auditory perception and speech discrimination after cochlear implantation in patients with connexin 26 (GJB2) gene-related deafness. Otol Neurotol 2004;25:930-934. (Pubitemid 39491674)