High prevalence of the IVS 1 + 1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2

Clinical Genetics

Volumn 69, Issue 5, 2006, Pages 410-413

  Seeman, Pavel ^a   Sakmaryova I ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

3170G to A; Congenital hearing loss; Connexin 26; Czech population; GJB2; IVS1 + 1 G to A; Pre lingual hearing loss

Indexed keywords

DNA; GENE PRODUCT; PROTEIN GJB2; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CZECH REPUBLIC; DNA SPLICING; EXON; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC RISK; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; PATHOGENESIS; PREVALENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ALLELES; COHORT STUDIES; CONNEXINS; CZECH REPUBLIC; DNA MUTATIONAL ANALYSIS; GENETIC SCREENING; HEARING LOSS, BILATERAL; HUMANS; MUTATION; RESTRICTION MAPPING; RNA SPLICE SITES;

EID: 33646159552     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00602.x     Document Type: Article

References (21)

1. Estivill X, Fortina P, Surrey S et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998: 351: 394-398.
2. Green GE, Scott DA, McDonald JM, Sheffield VC, Smith RJH. Carrier rates in the midwestern United States of GJB2 mutations causing inherited deafness. JAMA 1999: 281: 2211-2216.
3. Lim LH, Bradshaw JK, Guo Y et al. Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States. Arch Otolaryngol Head Neck Surg 2003: 129 (8): 836-840.
4. Kupka S, Braun S, Aberle S et al. Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment. Hum Mutat 2002: 20 (1): 77-78.
5. Sobe T, Vreugde S, Shahin H et al. The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Hum Genet 2000: 106: 50-57.
6. Seeman P, Malíková M, Rašková D et al. Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness. Clin Genet 2004: 66 (2): 152-157.
7. Hutchin T, Coy N, Conlon H et al. Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. Clin Genet 2005: 68 (6): 506-512.
8. Gurtler N, Kim Y, Mhatre A, Muller R, Probst R, Lalwani AK. GJB2 mutations in the Swiss hearing impaired. Ear Hear 2003: 24 (5): 440-447.
9. Del Castillo I, Villamar M, Moreno-Pelayo MA et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 2002: 346: 243-249.
10. Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ 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 2003: 73 (6): 1452-1458.
11. Seeman P, Bendova O, Raskova D, Malikova M, Groh D, Kabelka Z. Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population. Ann Hum Genet 2005: 69 (1): 9-14.
12. Gunther B, Steiner A, Nekahm-Heis D et al. The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria. Hum Mutat 2003: 22 (2): 180.
13. Denoyelle F, Marlin S, Weil D et al. Clinical features of the prevalent form of childhood deafness, D F N B 1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 1999: 353: 1298-1303.
14. Shahin H, Walsh T, Sobe T et al. Genetics of congenital deafness in the Palestinian population: Multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet 2002: 110: 284-289.
15. Santos RL, Aulchenko YS, Huygen PL et al. Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. Int J Pediatr Otorhinolaryngol 2005: 69 (2): 165-174.
16. Snoeckx RL, Hassan DM, Kamal NM, Van Den Bogaert K, Van Camp G. Mutation analysis of the GJB2 (connexin 26) gene in Egypt. Hum Mutat 2005: 26 (1): 60-61.
17. Gabriel H, Kupsch P, Sudendey J, Winterhager E, Jahnke K, Lautermann J. Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population. Hum Mutat 2001: 17 (6): 521-522.
18. Zoll B, Petersen L, Lange K et al. Evaluation of Cx26/GJB2 in German hearing impaired persons: Mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10. Hum Mutat 2003: 21 (1): 98.
19. Frei K, Szuhai K, Lucas T et al. Connexin 26 mutations in cases of sensorineural deafness in eastern Austria. Eur J Hum Genet 2002: 10 (7): 427-432.
20. Azaiez H, Chamberlin GP, Fischer SM et al. GJB2: The spectrum of deafness-causing allele variants and their phenotype. Hum Mutat 2004: 24 (4): 305-311.
21. Frei K, Ramsebner R, Lucas T et al. Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria. Hear Res 2004: 196: 115-118.