Avtor/Urednik		Battelino, Saba; Rudolf, Gorazd; Žargi, Miha; Trebušak-Podkrajšek, Katarina; Peterlin, Borut
Naslov		Connexin 26 (GJB2) and connexin 30 del(GJB6-D13S1830) mutations in Slovenians with prelingual non-syndromic deafness
Tip		članek
Vir		The Mediterranean Society of Otology and Audiology
Vol. in št.		Letnik 7, št. 3
Leto izdaje		2011
Obseg		str. 372-8
Jezik		eng
Abstrakt		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.
Deskriptorji		DEAFNESS CONNEXINS MUTATION ALLELES PHENOTYPE HOMOZYGOTE HETEROZYGOTE SLOVENIA ADULT