Article
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.
Genetic testing and molecular biomarkers - 1 Apr 2009
Primignani Paola, Trotta Luca, Castorina Pierangela, Lalatta Faustina, Sironi Francesca, Radaelli Chiara, Degiorgio Dario, Curcio Cristina, Travi Maurizio, Ambrosetti Umberto, Cesarani Antonio, Garavelli Livia, Formigoni Patrizia, Milani Donatella, Murri Alessandra, Cuda Domenico, Coviello Domenico Antonio
Abstract excerpt
Mutations in the GJB2 gene, which encodes the gap-junction protein connexin 26, are the most common cause of nonsyndromic hearing loss (NSHL) and account for about 32% of cases. We analyzed 734 patients and identified mutations in 474/1468 chromosomes. Thirty-six different mutations and five polymorphisms were found in 269 NSHL subjects. Our data confirm 35delG as the most frequent GJB2 mutation in the Italian...
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