Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan

European Archives of Oto-Rhino-Laryngology

Volumn 272, Issue 8, 2015, Pages 2071-2075

  Salman, Midhat ^a   Bashir, Rasheeda ^a,b   Imtiaz, Ayesha ^a   Maqsood, Azra ^a   Mujtaba, Ghulam ^a,c   Iqbal, Muddassar ^a   Naz, Sadaf ^a  

^a UNIVERSITY OF THE PUNJAB   (Pakistan)

^b LAHORE COLLEGE FOR WOMEN UNIVERSITY   (Pakistan)

^c Institute of Nuclear Medicine and Oncology (INMOL)   (Pakistan)

Author keywords

Connexin 26; Deafness; GJB2; Hearing loss; Pakistan

Indexed keywords

CONNEXIN 26; DFNA3 PROTEIN, HUMAN; GAP JUNCTION PROTEIN;

ALLELE; ARTICLE; COHORT ANALYSIS; CONSANGUINEOUS MARRIAGE; DISEASE SEVERITY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEARING IMPAIRMENT; HUMAN; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; PAKISTAN; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOUTH ASIA; ADULT; CHILD; GENETICS; HEARING LOSS; HETEROZYGOTE; HOMOZYGOTE; MIDDLE AGED; MUTATION; PATHOPHYSIOLOGY; SEVERITY OF ILLNESS INDEX;

ADULT; ALLELES; CHILD; CONNEXIN 26; CONNEXINS; FEMALE; HEARING LOSS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PAKISTAN; PEDIGREE; SEVERITY OF ILLNESS INDEX;

EID: 84931562665     PISSN: 09374477     EISSN: 14344726     Source Type: Journal    
DOI: 10.1007/s00405-015-3523-y     Document Type: Article

References (14)

1. Thonnissen E, Rabionet R, Arbones ML, Estivill X, Willecke K, Ott T (2002) Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. Hum Genet 111(2):190–197
2. Kenneson A, Van Naarden Braun K, Boyle C (2002) GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 4(4):258–274
3. Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabedian EN, Petit C (1999) Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 353(9161):1298–1303
4. Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D’Agruma L, Mansfield E, Rappaport E, Govea N, Mila M, Zelante L, Gasparini P (1998) Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 351(9100):394–398
5. Gasparini P, Rabionet R, Barbujani G, Melchionda S, Petersen M, Brondum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X (2000) High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet 8(1):19–23
6. 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 (1998) Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 339(21):1500–1505
7. Santos RL, Wajid M, Pham TL, Hussan J, Ali G, Ahmad W, Leal SM (2005) Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin Genet 67(1):61–68
8. Yoong SY, Mavrogiannis LA, Wright J, Fairley L, Bennett CP, Charlton RS, Spencer N (2011) Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss. Arch Dis Child 96(9):798–803
9. Shafique S, Siddiqi S, Schraders M, Oostrik J, Ayub H, Bilal A, Ajmal M, Seco CZ, Strom TM, Mansoor A, Mazhar K, Shah ST, Hussain A, Azam M, Kremer H, Qamar R (2014) Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. PLoS One 9(6):e100146
10. Martini A, Mazzoli M, Stephens D, Read A. (2001). Audiological terms. Definitions, protocols and guidelines in genetic hearing impairment: Whurr publishers, John Wiley & Sons, Ltd
11. Liu XZ, Pandya A, Angeli S, Telischi FF, Arnos KS, Nance WE, Balkany T (2005) Audiological features of GJB2 (connexin 26) deafness. Ear Hear 26(3):361–369
12. Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Lopponen T, Lopponen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G (2005) GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 77(6):945–957
13. McHugh RK, Friedman RA (2006) Genetics of hearing loss: allelism and modifier genes produce a phenotypic continuum. Anat Rec A Discov Mol Cell Evol Biol 288(4):370–381
14. Hilgert N, Huentelman MJ, Thorburn AQ, Fransen E, Dieltjens N, Mueller-Malesinska M, Pollak A, Skorka A, Waligora J, Ploski R, Castorina P, Primignani P, Ambrosetti U, Murgia A, Orzan E, Pandya A, Arnos K, Norris V, Seeman P, Janousek P, Feldmann D, Marlin S, Denoyelle F, Nishimura CJ, Janecke A, Nekahm-Heis D, Martini A, Mennucci E, Toth T, Sziklai I, Del Castillo I, Moreno F, Petersen MB, Iliadou V, Tekin M, Incesulu A, Nowakowska E, Bal J, Van de Heyning P, Roux AF, Blanchet C, Goizet C, Lancelot G, Fialho G, Caria H, Liu XZ, Xiaomei O, Govaerts P, Gronskov K, Hostmark K, Frei K, Dhooge I, Vlaeminck S, Kunstmann E, Van Laer L, Smith RJ, Van Camp G (2009) Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene. Eur J Hum Genet 17(4):517–524