The Prevalence of Connexin 26 Mutations in the Swedish Population

GJB2(Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort

“…In the Swedish prevalence study [7], the carrier frequency for L90P mutation was high (0.6%) compared with results from most other studies in Europe. No L90P mutations were found in the present study among HI persons.…”

“…Otherwise, only a few cases outside Austria have been reported. The carrier frequency in the Swedish study of L90P mutations was 0.6% [7], which is high from an overall European perspective.…”

“…After cooling at room temperature, about 150 ml were transferred to a new tube and stored at -20 C until amplification. The method used for analysis of the three above mutations has been described in detail elsewhere [7].…”

“…The CÂ26 35delG mutation is suggested to be more prevalent in southern Europe than in the northern parts of Europe. In Denmark, Norway, northern Finland and Sweden, four of the northernmost countries of Europe, the prevalence of heterozygotes with the CÂ26 35delG mutation is 1.8% [4], 1.1% [5], 1.3% [6] and 1.6% [7], respectively. In the Swedish prevalence study, there was a slightly lower allele frequency for the CÂ26 35delG mutation in the northern parts of Sweden (Norrbotten and Västerbotten), but the differences were not statistically significant.…”

Congenital cytomegalovirus infection – a common cause of hearing loss of unknown aetiology

“…After cooling at room temperature, about 150 μL was transferred to a new tube and stored at −2°C until amplification. The method used for the analysis of the three mutations c.30‐35del (35delG), c.269 T‐>C (L90P) and c.167delT (167delT) has been described elsewhere in detail (24). If no mutation was found in the first analysis, the whole genome was sequenced.…”