Mutation detection of GJB2 using IsoCode and real-time quantitative polymerase chain reaction with SYBR green I dye for newborn hearing screening

Laryngoscope

Volumn 114, Issue 7, 2004, Pages 1299-1304

  Kudo, Takayuki ^b   Oshima, Takeshi ^c   Kure, Shigeo ^b   Matsubara, Yoichi ^b   Ikeda, Katsuhisa ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c NONE

Author keywords

Allele specific amplification; Deafness; GJB2; IsoCode

Indexed keywords

CONNEXIN 26; DNA; DYE;

ALLELE; ARTICLE; AUDITORY SCREENING; BASE PAIRING; CLINICAL ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; DNA ISOLATION; EARLY DIAGNOSIS; GENE AMPLIFICATION; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; LANGUAGE DEVELOPMENT; MOLECULAR GENETICS; NEWBORN; NEWBORN SCREENING; OPEN READING FRAME; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; FLUORESCENT DYES; GENETIC SCREENING; HEARING TESTS; HUMANS; INFANT, NEWBORN; ORGANIC CHEMICALS; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDIES;

EID: 3242723390     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005537-200407000-00030     Document Type: Article

References (28)

1. Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991;630:16-31.
2. van Camp G, Willems PJ, Smith RJH. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet 1997;60:758-764.
3. Wessex Universal Neonatal Hearing Screening Trial Group. Controlled trial of universal neonatal screening for early identification of permanent childhood hearing impairment: Wessex Universal Neonatal Hearing Screening Trial Group. Lancet 1998;352:1957-1964.
4. Moeller MP. Early intervention and language development in children who are deaf and hard of hearing. Pediatrics 2000;106:E43.
5. Thompson DC, McPhillips H, Davis RL, Lieu TA, Homer CJ, Helfand M. Universal newborn hearing screening. JAMA 2001;286:2000-2010.
6. Genetic evaluation of congenital hearing loss expert panel: Genetic evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Genet Med 2002;4:62-171.
7. Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary nonsyndromic sensorineural deafness. Nature 1997;387:80-83.
8. Zelante L, Gasparini P, Estivill X, et al. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1998;6:1605-1609.
9. Estivill X, Fortina P, Surrey S, et al. Connexin 26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998;351:394-398.
10. Morell RJ, Kim HJ, Hood LJ, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998;339:1500-1505.
11. Kudo T, Ikeda K, Kure S, et al. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am J Med Genet 2000;90:141-145.
12. Kudo T, Ikeda K, Oshima T, et al. GJB2 (connexin 26) mutations and childhood deafness in Thailand. Otol Neurotol 2002;23:858-861.
13. Milunsky JM, Maher TA, Yosunkaya E, Vohr BR. Connexin-26 gene analysis in hearing-impaired newborns. Genet Test 2000;4:345-349.
14. Henning L, Felger I, Beck HP. Rapid DNA extraction for molecular epidemiological studies of malaria. Acta Trop 1999;72:149-155.
15. Fujii K, Matsubara Y, Akanuma J, et al. Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency. Hum Mutat 2000;15:189-196.
16. Ohtsuka A, Yuge I, Kimura S, et al. GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum Genet 203;112:329-333.
17. Rabionet R, Estivill X. Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene. J Med Genet 1999;36:260-261.
18. Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. Carrier rates in the Midwestern United States for GJB2 mutations causing inherited deafness. JAMA 1999;281:2211-2216.
19. Lucotte G, Bathelier C, Champenois T. PCR test for diagnosis of the common GJB2 (connexin 26) 35delG mutation on dried blood spots and determination of the carrier frequency in France. Mol Cell Probe 2001;15:57-59.
20. Pallares-Ruiz N, Blanchet P, Mondain M, et al. Evaluation of dHPLC for Cx26 mutation screening in patients from southern France with sensorineural deafness. Genet Test 2001;5:339-343.
21. Sugata A, Fukushima K, Sugata K-I, et al. High-throughput screening for GJB2 mutations: its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations. Auris Nasus Larynx 2002;29:231-239.
22. Yoshinaga-Itano C, Apuzzo ML. Identification of hearing loss after age 18 months is not early enough. Am Ann Deaf 1998;143:380-387.
23. Yoshinaga-Itano C, Apuzzo ML. The development of deaf and hard of hearing children identified early through the high-risk registry. Am Ann Deaf 1998;143:416-424.
24. Matsushiro N, Doi K, Fuse Y, et al. Successful cochlear implantation in prelingual profund deafness resulting from the common 233delC mutation of the GJB2 gene in the Japanese. Laryngoscope 2002;112:255-261.
25. 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.
26. Steel KP. A new era in the genetics of deafness. N Engl J Med 1998;339:1545-1547.
27. del Csatillo I, Villamar M, Noreno-Pelayo MA, et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 2002;346:243-249.
28. Green GE, Smith RJH, Bent J, Cohen ES. Genetic testing to identify deaf newborns. JAMA 2000;284:1245.