GJB2 mutations in patients with non-syndromic hearing loss from Croatia (CROSBI ID 155969)
Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija
Podaci o odgovornosti
Sansović, Ivona ; Knežević, Jelena ; Musani, Vesna ; Seeman, Pavel ; Barišić, Ingeborg ; Pavelić, Jasminka
engleski
GJB2 mutations in patients with non-syndromic hearing loss from Croatia
The aim of the study was to determine (1) the frequency and type of mutations in the coding region of the GJB2 gene (sequencing), (2) the frequency of splice site mutation IVS1+1G>A in the GJB2 gene (multiplex ligation– dependent probe amplification analysis), (3) possible copy number changes in the GJB2, GJB3, GJB6, and WFS1 genes (multiplex ligation– dependent probe amplification analysis), and (4) the frequency of del(GJB6- D13S1830) in the GJB6 gene in 58 unrelated patients with nonsyndromic hearing loss from Croatia. About 44.8% of our patients presented with mutation in the GJB2 gene. We identified seven sequence variations. Six of them had previously been reported as disease related (35delG, W24X, V37I, L90P, 313del14, and IVS1+1G>A), and we report here for the first time one novel variant, − 24A>C. We detected the greatest frequency of 35delG allele compared to the other alleles (35.3%). Allelic frequencies of other common mutations accounted for 2.6– 0.9% of analyzed chromosomes. Neither GJB6 deletion nor copy number changes in the GJB2, GJB3, GJB6, and WFS1 genes were found. The 35delG/35delG genotype was associated with severe to profound hearing loss in 94% of 35delG homozygotes. High mutation rate (44%) indicates that testing of the GJB2 gene will clarify the genetic cause in almost half of the cases of recessive nonsyndromic hearing loss in Croatia.
GJB2 mutation ; hearing loss ; Croatia
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Podaci o izdanju
13 (5)
2009.
693-699
objavljeno
1945-0265
1945-0257
10.1089/gtmb.2009.0073
Povezanost rada
Kliničke medicinske znanosti, Temeljne medicinske znanosti