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- Title
Connexin 26 (GJB2) and connexin 30 del(GJB6-D13S1830) mutations in Slovenians with prelingual non-syndromic deafness.
- Authors
Battellino, Saba; Rudolf, Gorazd; Zargi, Miha; Podkrajsek, Katarina Trebusak; Peterlin, Borut
- Abstract
Objective: To analyze the frequencies and clinical significance of connexin 26 (GJB2) mutations and connexin 30 (GJB6) del(GJB6-D13S1830) 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-D13S1830) 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-D13S1830) 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(GJB6-D13S1830) mutation.
- Subjects
SLOVENIA; GENETICS of deafness; CONNEXINS; DEAF people; SLOVENES
- Publication
Journal of International Advanced Otology, 2011, Vol 7, Issue 3, p372
- ISSN
1308-7649
- Publication type
Article