Author/Editor     Battelino, Saba; Rudolf, Gorazd; Žargi, Miha; Trebušak-Podkrajšek, Katarina; Peterlin, Borut
Title     Connexin 26 (GJB2) and connexin 30 del(GJB6-D13S1830) mutations in Slovenians with prelingual non-syndromic deafness
Type     članek
Source     The Mediterranean Society of Otology and Audiology
Vol. and No.     Letnik 7, št. 3
Publication year     2011
Volume     str. 372-8
Language     eng
Abstract     Objective: To analyze the frequencies and clinical significance of connexin 26 (GJB2) mutations and connexln 30 (GJB6-013S1830) mutation in congenital deaf patients in Slovenia. Materials and Methods: The frequency of the mutations in the connexin 26 gene and the frequency of del(GJB6-013S1830) mutation in the connexin 30 gene were determined in a cohort of 218 deaf patients referred for evaluation in a tertiary referral university hospital. Results: Among 218 congenital deaf patients 58 (26.6%) of them had mutations on both alleles of the GJB2 gene, with c.35delG being the most common. As in other neighboring countries we have not found the del(GJB6-013S1830) mutation in our sample.Conclusion: The c.35delG mutation in the GJB2 gene was the most common genetic cause of hearing loss in Slovenia. Homozygous c.35delG mutations (21.1 %) and compound heterozygotes (4.55%) were established among Slovene patients with congenital hearing loss. As in other neighboring populations, none of the Slovenian patients carried the del(GJB6013S1830) mutation.
Descriptors     DEAFNESS