GJB2 Gene Mutations in Cochlear Implant Recipients: Prevalence and Impact on Outcome

Archives of Otolaryngology - Head and Neck Surgery

Volumn 130, Issue 5, 2004, Pages 541-546

  Lustig, Lawrence R ^a   Lin, Doris ^b   Venick, Holly ^a   Larky, Jan ^b   Yeagle, Jennifer ^a   Chinnici, Jill ^a   Polite, Colleen ^b   Mhatre, Anand N ^b,c   Niparko, John K ^a   Lalwani, Anil K ^b,c  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c NEW YORK UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; CHILD; COCHLEA PROSTHESIS; CONFERENCE PAPER; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GJB2 GENE; HEARING LOSS; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION RATE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALLELES; AUDIOMETRY, PURE-TONE; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COCHLEAR IMPLANTATION; COCHLEAR IMPLANTS; CONNEXINS; HEARING LOSS; HUMANS; INFANT; MIDDLE AGED; PROSPECTIVE STUDIES; REHABILITATION OF HEARING IMPAIRED; SEQUENCE ANALYSIS, DNA; TREATMENT OUTCOME;

EID: 2342664954     PISSN: 08864470     EISSN: None     Source Type: Journal    
DOI: 10.1001/archotol.130.5.541     Document Type: Conference Paper

References (16)

1. Morton N. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci. 1991;630:16-31.
2. Gasparini P, Rabionet R, Barbujani G, et al. 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.
3. Denoyelle F, Weil D, Maw M, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet. 1997;6:2173-2177.
4. Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet. 1996;351:394-396.
5. Cohn ES, Kelley PM. Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss. Am J Med Genet. 1999;89:130-136.
6. Sobe T, Vreugde S, Shahin H, et al. The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Hum Genet. 2000;106:50-57.
7. Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg. 2001;127:1037-1042.
8. Lautermann J, Frank HG, Jahnke K, Traub O, Winterhager E. Developmental expression patterns of connexin26 and -30 in the rat cochlea. Dev Genet. 1999;25:306-311.
9. Lautermann J, ten Cate WJ, Altenhoff P, et al. Expression of the gap-junction connexins 26 and 30 in the rat cochlea. Cell Tissue Res. 1998;294:415-420.
10. Frenz CM, Van De Water TR. Immunolocalization of connexin 26 in the developing mouse cochlea. Brain Res Brain Res Rev. 2000;32:172-180.
11. Xia A, Kikuchi T, Hozawa K, Katori Y, Takasaka T. Expression of connexin 26 and Na,K-ATPase in the developing mouse cochlear lateral wall: functional implications. Brain Res. 1999;846:106-111.
12. Lin D, Goldstein JA, Mhatre AN, Lustig LR, Pfister M, Lalwani AK. Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 28 (GJB2). Hum Mutat. 2001;18:42-51.
13. del Castillo I, Villamar M, Moreno-Pelayo MA, et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med. 2002;346:243-249.
14. Green GE, Scott DA, McDonald JM, et al. Performance of cochlear implant recipients with GJB2-related deafness. Am J Med Genet. 2002;109:167-70.
15. Matsushiro N, Doi K, Fuse Y, et al. Successful cochlear implantation in prelingual profound deafness resulting from the common 233delC mutation of the GJB2 gene in the Japanese. Laryngoscope. 2002;112:255-261.
16. Fukushima K, Sugata K, Kasai N, et al. Better speech performance in cochlear implant patients with GJB2-related deafness. Int J Pediatr Otorhinolaryngol. 2002;62:151-157.