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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
Author(s) -
Seeman P,
Sakmaryová I
Publication year - 2006
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2006.00602.x
Subject(s) - hearing loss , genetics , czech , exon , mutation , population , sensorineural hearing loss , biology , coding region , gene , audiology , medicine , linguistics , philosophy , environmental health
Biallelic pathogenic GJB2 gene mutations cause pre‐lingual genetic hearing loss in up to 50% of individuals with bilateral sensorineural hearing loss worldwide. Sequencing of the entire GJB2 gene‐coding region in Czech patients with pre‐lingual bilateral hearing loss revealed that 10.3% of Czech patients carry only one monoallelic pathogenic mutation in the coding region of the GJB2 gene, which is significantly more than the population frequency of 3.4%. The 309‐kb GJB6 deletion, frequent in Spain and France, is very rare in the Czech population. In order to evaluate the impact of the IVS1 + 1 G to A splice site mutation in the non‐coding part of the GJB2 gene among Czech patients, we tested all available patients with pre‐lingual hearing loss with only one monoallelic mutation in the coding part of GJB2 . By sequencing of the exon 1 region of the GJB2 gene and Hph I restriction analysis in 20 Czech patients we identified nine patients carrying IVS1 + 1 G to A. Testing for this mutation explained deafness in 45% of Czech GJB2 monoallelic patients. This mutation represents now 4% of GJB2 pathogenic mutations in Czech patients and is the third most common GJB2 mutation found in our cohort of 242 unrelated Czech patients with prelingual hearing loss. A similar frequency may also be expected in other Central European or Slavic populations.