Screening for gap junction protein beta-2 gene mutations in Malays with autosomal recessive, non-syndromic hearing loss, using denaturing high performance liquid chromatography

Journal of Laryngology and Otology

Volumn 122, Issue 12, 2008, Pages 1284-1288

  Aishah, Z Siti ^a   Khairi, M D Mohd ^a   Normastura, A R ^b   Zafarina, Z ^b   Zilfalil, B A ^a  

^a SCHOOL OF MEDICAL SCIENCES   (Malaysia)

^b SCHOOL OF HEALTH SCIENCES   (Malaysia)

Author keywords

Congenital; GJB2 protein, human; Human genetics; Malaysia; Sensorineural hearing loss

Indexed keywords

GAP JUNCTION PROTEIN; GAP JUNCTION PROTEIN BETA 2; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; HEARING LOSS; HETEROZYGOSITY; HUMAN; MALAYSIA; ORAL BIOPSY; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; RELIABILITY;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; GENETIC SCREENING; GENOTYPE; HEARING LOSS; HUMANS; LINKAGE (GENETICS); MALAYSIA; MALE; MOUTH MUCOSA; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 57049102865     PISSN: 00222151     EISSN: 17485460     Source Type: Journal    
DOI: 10.1017/S0022215108002041     Document Type: Article

References (33)

1. Watkin PM. Neonatal otoacoustic emission screening and the identification of deafness. Arch Dis Child 1996;74:F16-25
2. Finitzo T, Albright K, O'Neal J. The newborn with hearing loss: detection in the nursery. Paediatrics 1998;102:1452-60
3. Mason JA, Herrmann KR. Universal infant hearing screening by automated auditory brainstem response measurement. Paediatrics 1998;101:221- 8
4. Vohr BR, Carty LM, Moore PE, Letourneau K. The Rhode Island Hearing Assessment Program: experience with statewide hearing screening (1993-1996). J Pediatr 1998;133:353-7
5. Watkin PM, Baldwin M. Confirmation of deafness in infancy. Arch Dis Child 1999;81:380-9
6. Shannon DA, Felix JK, Krumholz A, Goldstein PJ, Harris KC. Hearing screening of high-risk newborns with brainstem auditory evoked potentials: a follow up study. Paediatrics 1984;73:22-6
7. Watkin PM, Baldwin M, McEnergy G. Neonatal at risk screening and the identification of deafness. Arch Dis Child 1991;66:1130-5
8. Watson DR, McClelland RJ, Adams DA. Auditory brainstem response screening for hearing loss in high risk neonates. Int J Pediatr Otorhinolaryngol 1996;36:147-83
9. Hess M, Finckh-Kramer U, Bartsch M, Kewitz G, Versmold H, Gross M. Hearing screening in at-risk neonate cohort. Int J Pediatr Otorhinolaryngol 1998;46:81-9
10. Jan CM, Hildmann WA, Henneckeet KH. Neonatal screening for hearing disorders in infants at risk: incidence, risk factors, and follow up. Paediatrics 1999;104:900-4
11. Khairi MD, Din S, Shahid H, Normastura AR. Hearing screening of infants in Neonatal Unit, Hospital Universiti Sains Malaysia using transient evoked otoacoustic emissions. J Laryngol Otol 2005;119:678-83
12. Tomaski SM, Grundfast KM. A stepwise approach to the diagnosis and treatment of hereditary hearing loss. Pediatr Clin North Am 1999;46:35-48
13. Laer LV, Coucke P, Mueller RF, Caethoven G, Flothmann K, Prasad SD et al. A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet 2001;38:515-18
14. Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ. Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet 2000;37:41-3
15. Ruszymah BHI, Farah Wahida I, Zakinah Y, Zahari Z, Norazlinda MD, Saim L, et al. Congenital deafness: high prevalence of a V37I mutation in the GJB2 gene among deaf schoolchildren in Alor Setar. Med J Malaysia 2005;60:269-74
16. Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998;339:1500-05
17. Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N et al. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997;9:1605-9
18. Rabionet R, Gasparini P, Estivill X. Molecular genetics of hearing impairment due to mutations in gap junction genes encodes beta connexins. Hum Mutat 2000;16:190-202
19. 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 26 (GJB2). Hum Mutat 2001;18:42-51
20. Gurtler N, Kim Y, Mhatre A, Muller R, Probst R, Lalwani AK. GJB2 Mutations in the Swiss hearing impaired. Ear Hear 2003;24:440-7
21. Kudo T, Ikeda K, Oshima T, Kure S, Tammasaeng M, Prasansuk S et al. GJB2 (Connexin 26) mutations and childhood deafness in Thailand. Otol Neurotol 2001;22:858-61
22. Pampanos A, Economides J, Iliadou V, Neou P, Leotsakos P, Voyiatzis N et al. Prevalence of GJB2 mutations in prelingual deafness in the Greek population. Int J Pediatr Otorhinolaryngol 2002;65:101-8
23. Najmabadi H, Cucci RA, Sahebjam S, Kouchakian N, Farhadi M, Kahrizi K et al. GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss. Hum Mutat 2002; http://www.interscience. wiley.com/humanmutation/pdf/mutation/504.pdf; [5 February 2008]
24. Schade G, Kothe C, Ruge G, Hess M, Meyer CG. Screening auf GJB2-Mutationen mitWangenabstrichmaterial zur nicht-invasiven Diagnostik genetisch bedingter Innenohrschwerhörigkeit [in German]. Laryngo-Rhino-Otol 2003;82:397-401
25. Maheshwari M, Vijaya R, Ghosh M, Shastri S, Kabra M, Menon PSN. Screening of Families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario. Am J Med Genet 2003;120A:180-4
26. Santos RLP, Wajid M, Pham TL, Hussan J, Ali G, Ahmad Wet al. Low prevalence of connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clinic Genet 2005;67:61-8
27. Minarik G, Ferak V, Ferakova E, Ficek A, Polakova H, Kadasi L. High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with nonsyndromic hearing loss (NSHL). Gen Physiol Biophys 2003;22:549-56
28. Alvarez A, del Castillo I, Villamar M, Aguirre LA, lezNeira AG. High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (Gypsies) with autosomal recessive non-syndromic hearing loss. Am J Med Genet 2005;137A:255-8
29. Kalay E, Caylan R, Kremer H, de Brouwer APM, Karaguzel A. GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations. Hear Res 2005;203:88-93
30. Dahl HH, Saunders K, Kelly TM, Osborn AH, Wilcox S, Cone-Wesson B et al. Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness. Med J Aust 2001;175:182-3
31. Liu XZ, Xia XJ, Ke XM, Ouyang XM, Du LL, Liu YH et al. The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum Genet 2002;111:394-7
32. Tang HY, Fang P, Ward PA, Schmitt E, Darilek S, Manolidis S et al. 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 2006;140A:2401-15
33. Ross SA, Novak Z, Kumbla RA, Zhang A, Fowler KB, Boppana S. GJB2 and GJB6 mutations in children with congenital cytomegalovirus infection. Pediatr Res 2007;61:687-91