Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population

Genetic Testing

Volumn 12, Issue 4, 2008, Pages 569-574

  Abidi, Omar ^a,b   Boulouiz, Redouane ^a   Nahili, Halima ^a   Bakhouch, Khadija ^a   Wakrim, Lahcen ^a   Rouba, Hassan ^a   Chafik, Abdelaziz ^b   Hassar, Mohammed ^a   Barakat, Abdelhamid ^a  

^a Institut Pasteur du Maroc   (Morocco)

^b FACULTÉ DES SCIENCES   (Morocco)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ARTICLE; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; HEARING IMPAIRMENT; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; MOROCCO; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PREVALENCE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; GENE FREQUENCY; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MOROCCO; MUTATION; MUTATION, MISSENSE; POINT MUTATION; POLYMORPHISM, GENETIC; SEQUENCE DELETION;

EID: 57749093231     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2008.0063     Document Type: Article

References (48)

1. Abe S, Usami S, Shinkawa H, et al. (2000) Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet 37:41-43.
2. Abidi O, Boulouiz R, Nahili H, et al. (2007) GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation. Int J Pediatr Otorhinolaryngol 71:1239-1245.
3. Antoniadi T, Rabionet R, Kroupis C, et al. (1999) High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness. Clin Genet 55:381-382.
4. Belguith H, Hajji S, Salem N, et al. (2005) Analysis of GJB2 mutation: evidence for a Mediterranean ancestor for the 35delG mutation. Clin Genet 68:188-189.
5. Chaleshtori MH, Farrokhi E, Shahrani M, et al. (2007) High carrier frequency of the GJB2 mutation (35delG) in the north of Iran. Int J Pediatr Otorhinolaryngol 71:863-867.
6. Dalamon V, Beheran A, Diamante F, et al. (2005) Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients. Hear Res 207:43-49.
7. Denoyelle F, Weil D, Maw MA, et al. (1997) Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 6:2173-2177.
8. Estivill X, Fortina P, Surrey S, et al. (1998) Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 351:394-398.
9. Gasparini P, Rabionet R, Barbujani G, et al. (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.
10. Gazzaz B, Weil D, Rais L, et al. (2005) Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant. Hear Res 210:80-84.
11. Huculak C, Bruyere H, Nelson TN, et al. (2006) V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity. Am J Med Genet A 140:2394-2400.
12. Hwa HL, Ko TM, Hsu CJ, et al. (2003) Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness. Genet Med 5:161-165.
13. Kalay E, Caylan R, Kremer H, et al. (2005) GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations. Hear Res 203:88-93.
14. Kelley PM, Harris DJ, Comer BC, et al. (1998) Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 62:792-799.
15. Kenneson A, van Naarden Braun K, Boyle C (2002) GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 4:258-274.
16. Kudo T, Ikeda K, Kure S, et al. (2000) Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am J Med Genet 90:141-145.
17. Kupka S, Braun S, Aberle S, et al. (2002) Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment. Hum Mutat 20:77-78.
18. Liu XZ, Xia XJ, Ke XM, et al. (2002) The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum Genet 111:394-397.
19. Lucotte G (2007) High prevalences of carriers of the 35delG mutation of connexin 26 in the Mediterranean area. Int J Pediatr Otorhinolaryngol 71:741-746.
20. Lucotte G, Dieterlen F (2005) The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece. Genet Test 9:20-25.
21. Lucotte G, Mercier G (2001) Meta-analysis of GJB2 mutation 35delG frequencies in Europe. Genet Test 5:149-152.
22. Lucotte G, Pinna A (2003) Elevated frequencies of the 35delG allele of the connexin 26 gene in Corsica, France. Clin Genet 64:517-518.
23. Marlin S, Garabedian EN, Roger G, et al. (2001) Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. Arch Otolaryngol Head Neck Surg 127:927-933.
24. Masmoudi S, Elgaied-Boulila A, Kassab I, et al. (2000) Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE. J Med Genet 37:E39.
25. Mercier G, Bathelier C, Lucotte G (2005) Connexin 26 mutation 35delG: prevalence of carriers in various regions in France. Int J Pediatr Otorhinolaryngol 69:1187-1190.
26. Morell RJ, Kim HJ, Hood LJ, et al. (1998) Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with non-syndromic recessive deafness. N Engl J Med 339:1500-1505.
27. Morton NE (1991) Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 630:16-31.
28. Mustapha M, Salem N, Delague V, et al. (2001) 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:E36.
29. Neocleous V, Aspris A, Shahpenterian V, et al. (2006a) High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss. Genet Test 10:285-289.
30. Neocleous V, Portides G, Anastasiadou V, Phylactou LA (2006b) Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population. Int J Pediatr Otorhinolaryngol 70:1473-1477.
31. Oliveira CA, Pimpinati CJ, Alexandrino F, et al. (2007) Allelic frequencies of the 35delG mutation of the GJB2 gene in different Brazilian regions. Genet Test 11:1-3.
32. Palmada M, Schmalisch K, Bohmer C, et al. (2006) Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment. Neurobiol Dis 22:112-118.
33. Pollak A, Skorka A, Mueller-Malesinska M, et al. (2007) M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. Am J Med Genet A 143:2534-2543.
34. Propst EJ, Stockley TL, Gordon KA, et al. (2006) Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric cochlear implant program. Int J Pediatr Otorhinolaryngol 70:435-444.
35. Rabionet R, Gasparini P, Estivill X (2000) Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum Mutat 16:190-202.
36. Rothrock CR, Murgia A, Sartorato EL, et al. (2003) Connexin 26 35delG does not represent a mutational hotspot. Hum Genet 113:18-23.
37. Roux AF, Pallares-Ruiz N, Vielle A, et al. (2004) Molecular epidemiology of DFNB1 deafness in France. BMC Med Genet 5:5.
38. Shi GZ, Gong LX, Xu XH, et al. (2004) GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China. Hear Res 197:19-23.
39. Simsek M, Al-Wardy N, Al-Khayat A, et al. (2001) Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population. Hum Mutat 18:545-546.
40. Storm K, Willocx S, Flothmann K, van Camp G (1999) 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 14:263-266.
41. Tang HY, Fang P, Ward PA, et al. (2006) 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 A 140:2401-2415.
42. Tekin M, Akar N, Cin S, et al. (2001a) Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians. Hum Genet 108:385-389.
43. Tekin M, Arnos KS, Pandya A (2001b) Advances in hereditary deafness. Lancet 358:1082-1090.
44. Utrera R, Ridaura V, Rodriguez Y, et al. (2007) Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss. Genet Test 11:347-352.
45. Uyguner O, Emiroglu M, Uzumcu A (2001) Spectrum of connexin 26 gene (GJB2) mutations in Turkish families with inherited non syndromic deafness and determination of the GJB2 35delG mutation carrier frequency in Turkish population. Eur J Hum Genet 9(S1):283.
46. Van Laer L, Coucke P, Mueller RF, et al. (2001) A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet 38:515-518.
47. Wattanasirichaigoon D, Limwongse C, Jariengprasert C, et al. (2004) High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals. Clin Genet 66:452-460.
48. Zelante L, Gasparini P, Estivill X, et al. (1997) Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 6:1605-1609.