GJB2 mutations: Passage through Iran

American Journal of Medical Genetics

Volumn 133 A, Issue 2, 2005, Pages 132-137

  Najmabadi, Hossein ^a   Nishimura, Carla ^c   Kahrizi, Kimia ^a   Riazalhosseini, Yasser ^a   Malekpour, Mahdi ^a   Daneshi, Ahmad ^b   Farhadi, Mohammad ^b   Mohseni, Marzieh ^a   Mahdieh, Nejat ^a   Ebrahimi, Ahmad ^a   Bazazzadegan, Niloofar ^a   Naghavi, Anoosh ^a   Avenarius, Matthew ^c   Arzhangi, Sanaz ^a   Smith, Richard J H ^c  

^a UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

^b IRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c UNIVERSITY OF IOWA HEALTH CARE   (United States)

Author keywords

(GJB6 D13S1830); 35delG; GJB2 mutations; Hereditary hearing loss; Iran

Indexed keywords

CONNEXIN 26;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE NON SYNDROMIC DEAFNESS; CHROMOSOME DELETION 13; CONTROLLED STUDY; FAMILY; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC LOAD; GEOGRAPHIC DISTRIBUTION; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; IRAN; PREVALENCE; PRIORITY JOURNAL;

CONNEXINS; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENETIC SCREENING; GENOTYPE; GEOGRAPHY; HEARING LOSS; HUMANS; IRAN; MALE; MUTATION; PREVALENCE;

EID: 20044375751     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30576     Document Type: Article

References (42)

1. Antoniadi T, Gronskov K, Sand A, Pampanos A, Brondum-Nielsen K, Petersen MB. 2000. Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. Hum Mutat 16:7-12.
2. Baris I, Kilinc MO, Tolun A. 2001. Frequency of the 35delG mutation in the connexin 26 gene in Turkish hearing-impaired patients. Clin Genet 60:452-455.
3. Bayazit YA, Cable BB, Cataloluk O, Kara C, Chamberlin P, Smith RJ, Kanlikama M, Ozer E, Cakmak EA, Mumbuc S, Arslan A. 2003. GJB2 gene mutations causing familial hereditary deafness in Turkey. Int J Pediatr Otorhinolaryngol 67:1331-1335.
4. Brobby GW, Muller-Myhsok B, Horstmann RD. 1998. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med 338:548-550.
5. Brown KA, Janjua AH, Karbani G, Parry G, Noble A, Crockford G, Bishop DT, Newton VE, Markham AF, Mueller RF. 1996. Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. Hum Mol Genet 5:169-173.
6. Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A. 1997. Two different connexin 26 mutations in an inbred kindred segregating nonsyndromic recessive deafness: Implications for genetic studies in isolated populations. Hum Mol Genet 6:2163-2172.
7. Chaib H, Lina-Granade G, Guilford P, Plauchu H, Levilliers J, Morgon A, Petit C. 1994. A gene responsible for a dominant form of neurosensory nonsyndromic deafness maps to the NSRD1 recessive deafness gene interval. Hum Mol Genet 3:2219-2222.
8. Del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I, Moreno F. 2002. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 346:243-249.
9. Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F. 2003. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: A multicenter study. Am J Hum Genet 73:1452-1458.
10. Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dode C, Marlin S, Boulila-ElGaied A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Petit C. 1997. Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 6:2173-2177.
11. Erbe CB, Harris KC, Runge-Samuelson CL, Flanary VA, Wackym PA. 2004. Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss. Laryngoscope 114:607-611.
12. 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 351:394-398.
13. 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 8:19-23.
14. Gorlin RJ, Toriello HV, Cohen MM. 1995. Hereditary hearing loss and its syndromes. Oxford: Oxford University Press. p 488.
15. Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. 1999. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 281:2211-2216.
16. Hamelmann C, Amedofu GK, Albrecht K, Muntau B, Gelhaus A, Brobby GW, Horstmann RD. 2001. Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum Mutat 18:84-85.
17. Iliades T, Eleftheriades N, Iliadou V, Pampanos A, Voyiatzis N, Economides J, Leotsakos P, Neou P, Tsakanikos M, Antoniadi T, Konstantopoulou I, Yannoukakos D, Grigoriadou M, Skevas A, Petersen MB. 2002. Prelingual nonsyndromic hearing loss in Greece. Molecular and clinical findings. ORL J Otorhinolaryngol Relat Spec 64:321-323.
18. Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ. 1998. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 62:792-799.
19. Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM. 1997. Connexin 26 mutations in hereditary nonsyndromic sensorineural deafness. Nature 387:80-83.
20. Lench N, Houseman M, Newton V, Van Camp G, Mueller R. 1998. Connexin-26 mutations in sporadic non-syndromal sensorineural deafness. Lancet 351:415.
21. Lerer I, Sagi M, Malamud E, Levi H, Raas-Rothschild A, Abeliovich D. 2000. Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. Am J Med Genet 95:53-56.
22. Lucotte G, Mercier G. 2001. Meta-analysis of GJB2 mutation 35delG frequencies in Europe. Genet Test 5:149-152.
23. Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE. 1993. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet 46:486-491.
24. Maw MA, Allen-Powell DR, Goodey RJ, Stewart IA, Nancarrow DJ, Hayward NK, Gardner RJ. 1995. The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population. Am J Hum Genet 57:629-635.
25. 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 339:1500-1505.
26. Morton NE. 1991. Genetic epidemiology of hearing impairment. Ann NY Acad Sci 630:16-31.
27. Najmabadi H, Cucci RA, Sahebjam S, Kouchakian N, Farhadi M, Kahrizi K, Arzhangi S, Daneshmandan N, Javan K, Smith RJH. 2002. GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss. Hum Mutat 19:572.
28. Park HJ, Hahn SH, Chun YM, Park K, Kim HN. 2000. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 110:1535-1538.
29. Petit C. 1996. Genes responsible for human hereditary deafness: Symphony of a thousand. Nature Genet 14:385-391.
30. Rothrock CR, Murgia A, Sartorato EL, Leonardi E, Wei S, Lebeis SL, Yu LE, Elfenbein JL, Fisher RA, Friderici KH. 2003. Connexin 26 35delG does not represent a mutational hotspot. Hum Genet 113:18-23.
31. Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Van Camp G, Smith RJ, Sheffield VC. 1998a. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 11:387-394.
32. Scott DA, Kraft ML, Stone EM, Sheffield VC, Smith RJ. 1998b. Connexin mutations and hearing loss. Nature 391:32.
33. Shahin H, Walsh T, Sobe T, Lynch E, King MC, Avraham KB, Kanaan M. 2002. Genetics of congenital deafness in the Palestinian population: Multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet 110:284-289.
34. Simsek M, Al-Wardy N, Al-Khabory M. 2001a. A seminested PCR test for simultaneous detection of two common mutations (35delG and 167delT) in the connexin-26 gene. Mol Diagn 6:63-67.
35. Simsek M, Al-Wardy N, Al-Khayat A, Shanmugakonar M, Al-Bulushi T, Al-Khabory M, Al-Mujeni S, Al-Harthi S. 2001b. Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population. Hum Mutat 18:545-546.
36. Sobe T, Vreugde S, Shahin H, Berlin M, Davis N, Kanaan M, Yaron Y, Orr-Urtreger A, Frydman M, Shohat M, Avraham KB. 2000. The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Hum Genet 106:50-57.
37. Stevenson VA, Ito M, Milunsky JM. 2003. Connexin-30 deletion analysis in connexin-26 heterozygotes. Genet Test 7:151-154.
38. Tekin M, Duman T, Bogoclu G, Incesulu A, Comak E, Ilhan I, Akar N. 2003. Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: Roles of parental consanguinity and assortative mating. Hum Mutat 21:552-553.
39. Uyguner O, Emiroglu M, Uzumcu A, Hafiz G, Ghanbari A, Baserer N, Yuksel-Apak M, Wollnik B. 2003. Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss. Clin Genet 64:65-69.
40. Van Camp G, Willems PJ, Smith RJH. 1997. Nonsyndromic hearing impairment: Unparalleled heterogeneity. Am J Hum Genet 60:758-764.
41. Van Laer L, Coucke P, Mueller RF, Caethoven G, Flothmann K, Prasad SD, Chamberlin GP, Houseman M, Taylor GR, Van de Heyning CM, Fransen E, Rowland J, Cucci RA, Smith RJ, Van Camp G. 2001. A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet 38:515-518.
42. Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Mila M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P. 1997. Connexin 26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 6:1605-1609.