Naslov
GJB2 mutations in Croatian patients with non-syndromic hearing loss

Autori
Sansović, Ivona ; Barišić, Ingeborg ; Pavelić, Jasminka

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
European Journal of Human Genetics / Van Ommen, Gert-Jan B. - Leiden : Nature publishing group, 2007

Skup
European Human Genetics Conference 2007

Mjesto i datum
Nica, Francuska, 16.06.2007. - 19.06.2007

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
GJB2; mutation; Croatia; hearing-loss

Sažetak
Mutations in GJB2 (connexion 26) gene represent a major cause of prelingual non-syndromic hearing loss (NSHL) worldwide. Among them, 35delG mutation accounts for approximately 70% of all GJB2 mutant alleles in most European populations. The aim of the study was to evaluate the frequency and type of mutations in the exon 2 of GJB2 gene and frequency of (GJB6-D13S1830)del in GJB6 gene in 48 patients with recessive NSHL from Croatia. The coding region of the GJB2 gene was sequenced and the GJB6 deletion was analyzed by two specific PCR reactions. A half (26/48 or 54%) of our patients presented with one or two mutations in the GJB2 gene. Among 50 mutated chromosomes found in patient with NSHL, 41 (82%) carried 35delG mutation. Other common mutations – L90P, 313del14, V371 and W24X, accounted for 3.1% - 1.0% of analyzed chromosomes. We have also found a novel variant, -24A>C, reported here for the first time. GJB6 deletion was not found in our tested subjects. The high mutation rate (50/96 or 52%) in the coding region of the GJB2 gene indicates the importance of the GJB2 gene testing in Croatian patients with recessive NSHL.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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