GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation

International Journal of Pediatric Otorhinolaryngology

Volumn 71, Issue 8, 2007, Pages 1239-1245

  Abidi, Omar ^a   Boulouiz, Redouane ^a   Nahili, Halima ^a   Ridal, Mohammed ^b   Alami, Mohamed Noureddine ^b   Tlili, Abdelaziz ^c   Rouba, Hassan ^a   Masmoudi, Saber ^c   Chafik, Abdelaziz ^d   Hassar, Mohammed ^a   Barakat, Abdelhamid ^a  

^a Institut Pasteur du Maroc   (Morocco)

^b HASSAN II UNIVERSITY HOSPITAL   (Morocco)

^c UNIVERSITY OF SFAX   (Tunisia)

^d FACULTÉ DES SCIENCES   (Morocco)

Author keywords

35delG mutation; GJB2; GJB6; Hereditary hearing loss; Morocco; Prevalence of 35delG carriers

Indexed keywords

CONNEXIN 26; GENOMIC DNA; GLUTAMIC ACID; GUANINE; ISOLEUCINE; VALINE;

ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE NON SYNDROMIC HEARING LOSS; CONTROLLED STUDY; DISEASE SEVERITY; DNA ISOLATION; FEMALE; GENE; GENE DELETION; GENE SEQUENCE; GJB2 GENE; HEARING LOSS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOROCCO; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; SEQUENCE ANALYSIS; SITE DIRECTED MUTAGENESIS;

CHROMOSOME MAPPING; CONNEXINS; DNA MUTATIONAL ANALYSIS; GENE DELETION; GENES, RECESSIVE; GENOTYPE; HEARING LOSS; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; MOROCCO; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 34347358484     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijporl.2007.04.019     Document Type: Article

References (46)

1. Morton N.E. Genetic epidemiology of hearing impairment. Ann. N.Y. Acad. Sci. 630 (1991) 16-31
2. Marazita M.L., Ploughman L.M., Rawlings B., Remington E., Arnos K.S., and Nance W.E. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am. J. Med. Genet. 46 (1993) 486-491
3. Denoyelle F., Lina-Granade G., Plauchu H., Bruzzone R., Chaib H., Levi-Acobas F., et al. Connexin 26 gene linked to a dominant deafness. Nature 393 (1998) 319-320
4. Petersen M.B., and Willems P.J. Non-syndromic, autosomal-recessive deafness. Clin. Genet. 69 (2006) 371-392
5. Kikuchi T., Kimura R.S., Paul D.L., and Adams J.C. Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anat. Embryol. (Berl) 191 (1995) 101-118
6. Kenneson A., Van Naarden Braun K., and Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet. Med. 4 (2002) 258-274
7. Roux A.F., Pallares-Ruiz N., Vielle A., Faugere V., Templin C., Leprevost D., et al. Molecular epidemiology of DFNB1 deafness in France. BMC Med. Genet. 5 (2004) 5
8. Estivill X., Fortina P., Surrey S., Rabionet R., Melchionda S., D'Agruma L., et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 351 (1998) 394-398
9. Abe S., Usami S., Shinkawa H., Kelley P.M., and Kimberling W.J. Prevalent connexin 26 gene (GJB2) mutations in Japanese. J. Med. Genet. 37 (2000) 41-43
10. Liu X.Z., Xia X.J., Ke X.M., Ouyang X.M., Du L.L., Liu Y.H., et al. The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum. Genet. 111 (2002) 394-397
11. Wang Y.C., Kung C.Y., Su M.C., Su C.C., Hsu H.M., Tsai C.C., et al. Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan. Eur. J. Hum. Genet. 10 (2002) 495-498
12. Morell R.J., Kim H.J., Hood L.J., 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. 339 (1998) 1500-1505
13. Brobby G.W., Muller-Myhsok B., and Horstmann R.D. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N. Engl. J. Med. 338 (1998) 548-550
14. Storm K., Willocx S., Flothmann K., and Van Camp G. Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method. Hum. Mutat. 14 (1999) 263-266
15. del Castillo I., Villamar M., Moreno-Pelayo M.A., del Castillo F.J., Alvarez A., Telleria D., et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N. Engl. J. Med. 346 (2002) 243-249
16. Lench N.J., Markham A.F., Mueller R.F., Kelsell D.P., Smith R.J., Willems P.J., et al. A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2). J. Med. Genet. 35 (1998) 151-152
17. Gazzaz B., Weil D., Rais L., Akhyat O., Azeddoug H., and Nadifi S. Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant. Heart Res. 210 (2005) 80-84
18. Simsek M., Al-Wardy N., Al-Khayat A., Shanmugakonar M., Al-Bulushi T., Al-Khabory M., et al. Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population. Hum. Mutat. 18 (2001) 545-546
19. Minarik G., Ferakova E., Ficek A., Polakova H., and Kadasi L. GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis. Clin. Genet. 68 (2005) 554-557
20. Denoyelle F., Marlin S., Weil D., Moatti L., Chauvin P., Garabedian E.N., et al. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 353 (1999) 1298-1303
21. Seeman P., Malikova M., Raskova D., Bendova O., Groh D., Kubalkova M., et al. Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness. Clin. Genet. 66 (2004) 152-157
22. Murgia A., Orzan E., Polli R., Martella M., Vinanzi C., Leonardi E., et al. Cx26 deafness: mutation analysis and clinical variability. J. Med. Genet. 36 (1999) 829-832
23. 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. 65 (2002) 101-108
24. Mustapha M., Salem N., Delague V., Chouery E., Ghassibeh M., Rai M., et al. Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene. J. Med. Genet. 38 (2001) E36
25. Uyguner O., Emiroglu M., Uzumcu A., Hafiz G., Ghanbari A., Baserer N., et al. Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss. Clin. Genet. 64 (2003) 65-69
26. Lopponen T., Vaisanen M.L., Luotonen M., Allinen M., Uusimaa J., Lindholm P., et al. Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland. Laryngoscope 113 (2003) 1758-1763
27. Lucotte G., Bathelier C., and 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 Probes 15 (2001) 57-59
28. Rabionet R., Zelante L., Lopez-Bigas N., D'Agruma L., Melchionda S., Restagno G., et al. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum. Genet. 106 (2000) 40-44
29. Neocleous V., Portides G., Anastasiadou V., and Phylactou L.A. Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population. Int. J. Pediatr. Otorhinolaryngol. 70 (2006) 1473-1477
30. Kelley P.M., Harris D.J., Comer B.C., Askew J.W., Fowler T., Smith S.D., et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am. J. Hum. Genet. 62 (1998) 792-799
31. Denoyelle F., Weil D., Maw M.A., Wilcox S.A., Lench N.J., Allen-Powell D.R., et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum. Mol. Genet. 6 (1997) 2173-2177
32. Carrasquillo M.M., Zlotogora J., Barges S., and Chakravarti A. Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum. Mol. Genet. 6 (1997) 2163-2172
33. Van Laer L., Coucke P., Mueller R.F., Caethoven G., Flothmann K., Prasad S.D., et al. A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J. Med. Genet. 38 (2001) 515-518
34. G. Lucotte, High prevalences of carriers of the 35delG mutation of connexin 26 in the Mediterranean area, Int. J. Pediatr. Otorhinolaryngol., 2007.
35. Masmoudi S., Elgaied-Boulila A., Kassab I., Ben Arab S., Blanchard S., Bouzouita J.E., et al. Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE. J. Med. Genet. 37 (2000) E39
36. Marlin S., Garabedian E.N., Roger G., Moatti L., Matha N., Lewin P., et al. Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. Arch. Otolaryngol. Head Neck Surg. 127 (2001) 927-933
37. Toth T., Kupka S., Haack B., Riemann K., Braun S., Fazakas F., et al. GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary. Hum. Mutat. 23 (2004) 631-632
38. Ben Arab S., Hmani M., Denoyelle F., Boulila-Elgaied A., Chardenoux S., Hachicha S., et al. Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates. Clin. Genet. 57 (2000) 439-443
39. Medica I., Rudolf G., Balaban M., and Peterlin B.C. 35delG/GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment. BMC Ear Nose Throat Disord. 5 (2005) 11
40. Snoeckx R.L., Huygen P.L., Feldmann D., Marlin S., Denoyelle F., Waligora J., et al. GJB2 mutations and degree of hearing loss: a multicenter study. Am. J. Hum. Genet. 77 (2005) 945-957
41. Bruzzone R., Veronesi V., Gomes D., Bicego M., Duval N., Marlin S., et al. Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness. FEBS Lett. 533 (2003) 79-88
42. Palmada M., Schmalisch K., Bohmer C., Schug N., Pfister M., Lang F., et al. Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment. Neurobiol. Disord. 22 (2006) 112-118
43. Del Castillo I., Moreno-Pelayo M.A., Del Castillo F.J., Brownstein Z., Marlin S., Adina Q., et al. 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 (2003) 1452-1458
44. del Castillo F.J., Rodriguez-Ballesteros M., Alvarez A., Hutchin T., Leonardi E., de Oliveira C.A., et al. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J. Med. Genet. 42 (2005) 588-594
45. Snoeckx R.L., Hassan D.M., Kamal N.M., Van Den Bogaert K., and Van Camp G. Mutation analysis of the GJB2 (connexin 26) gene in Egypt. Hum. Mutat. 26 (2005) 60-61
46. Kupka S., Braun S., Aberle S., Haack B., Ebauer M., Zeissler U., et al. Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment. Hum. Mutat. 20 (2002) 77-78