Mirko Aldè, Giovanna Cantarella, Diego Zanetti, Lorenzo Pignataro, Ignazio La Mantia, Luigi Maiolino, Salvatore Ferlito, Paola Di Mauro, Salvatore Cocuzza, Jérôme René Lechien, Giannicola Iannella, Francois Simon, Antonino Maniaci
Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype. Therefore, most patients diagnosed with autosomal dominant non-syndromic HL have a hearing-impaired parent, although de novo mutations should be considered in all cases of negative family history. To date, more than 50 genes and 80 loci have been identified for autosomal dominant non-syndromic HL. DFNA22 ( MYO6 gene), DFNA8/12 ( TECTA gene), DFNA20/26 ( ACTG1 gene), DFNA6/14/38 ( WFS1 gene), DFNA15 ( POU4F3 gene), DFNA2A ( KCNQ4 gene), and DFNA10 ( EYA4 gene) are some of the most common forms of autosomal dominant non-syndromic HL...
June 1, 2023: Biomedicines