High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss

Journal of Laryngology and Otology

Volumn 123, Issue 3, 2009, Pages 273-277

  Khandelwal, G ^a   Bhalla, S ^a   Khullar, M ^a   Panda, N K ^a  

^a POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

Author keywords

Congenital; Connexins; India; Sensorineural Hearing Loss

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PREVALENCE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; INDIA; INFANT; MALE; MIDDLE AGED; POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 67649294812     PISSN: 00222151     EISSN: 17485460     Source Type: Journal    
DOI: 10.1017/S0022215108002892     Document Type: Article

References (16)

1. Unger VM, Kumar NM, Gilula NB, Yeager M. Three- dimensional structure of a recombinant gap junction membrane channel. Science 1999;283: 1176-80
2. 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;281:2211-16
3. 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 non syndromic recessive deafness. N Engl J Med 1998;339:1500-5
4. Sobe T, Vreugde S, Shahin H, Berlin M, Davis N, Kanaam M et al. The prevalence and expression of inherited con- nexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Hum Genet 2000;106:50-7
5. Ramshankar M, Girirajan S, Dagan O, Ravi Shankar HM, Jalvi R, Rangasayee R et al. Contribution of connexin 26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. J Med Genet 2003;40:e68-72
6. Maheshwari M, Vijaya R, Ghosh M, Shastri S, Kabra M, Menon PS. Screening of families with autosomal recessive nonsyndromic hearing impairment (ARNSHI) for mutations in GJB2: Indian scenario. Am J Med Genet 2003;120A:180-4
7. Ramchander PV, Nandur VU, Dwarakanath K, Vishnu- priya S, Padma T. Prevalence of Cx26 (GJB2) gene mutations causing recessive nonsyndromic hearing impairment in India. Int J Hum Genet 2005;5(4):241-6
8. Gill P, Werrett DJ. Exclusion of a man charged with murder by DNA fingerprinting. Forensic Sci Int 1987;35: 145-8
9. Khullar M, Bhalla S, Sharma R, Sehrawat BS, Panda NK. PCR-RFLP assay for W24X mutation detection in non- syndromic hearing loss subjects. J Med Genet 2003;40:68e
10. Bors A, Andrikovics H, Kalmar L, Erdei N, Galambos S, Losonczi A et al. Frequencies of two common mutations (c.35delG and c.167delT) of the connexin 26 gene in different populations of Hungary. Int J Mol Med 2004;14(6):1105-8
11. Mehmet S, Al-Wardy N, Al-Khabory M. A polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) test to detect the common mutation (35delG) in the connexin-26 gene. SQU Journal for Scientific Research 2001;1:9-12
12. Rabionet R, Gasparinin P, Estivill X. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum Mutat 2000;16:190-202
13. Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Gar-abedian EN et al. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin26 gene defect: implications for genetic counselling. Lancet 1999; 353:1298-303
14. Murgia A, Orzan E, Polli R, Martella M, Vinanzi C, Leo- nardi E et al. CX26 deafness: mutation analysis and clinical variability. J Med Genet 1999;36:829-32
15. Riazuddin S, Castelein CM, Ahmed ZM, Lalwani AK, Mastroianni MA, Naz S et al. Dominant modifier DFNM1 suppresses recessive deafness DFNB26. Nature Genet 2000;26:431-4
16. Samanich J, Lowes C, Burk R, Shanske S, Lu J, Shanske A et al. Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. Am J Med Genet 2007; 143A(8):830-8