Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review
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
Affiliations
Mirko Aldè
Department of Clinical Sciences and Community Health, University of Milan, 20090 Milan, Italy
Giovanna Cantarella
Department of Clinical Sciences and Community Health, University of Milan, 20090 Milan, Italy
Diego Zanetti
Department of Clinical Sciences and Community Health, University of Milan, 20090 Milan, Italy
Lorenzo Pignataro
Department of Clinical Sciences and Community Health, University of Milan, 20090 Milan, Italy
Ignazio La Mantia
Department of Medical, Surgical Sciences and Advanced Technologies G.F. Ingrassia, University of Catania, 95123 Catania, Italy
Luigi Maiolino
Department of Medical, Surgical Sciences and Advanced Technologies G.F. Ingrassia, University of Catania, 95123 Catania, Italy
Salvatore Ferlito
Department of Medical, Surgical Sciences and Advanced Technologies G.F. Ingrassia, University of Catania, 95123 Catania, Italy
Paola Di Mauro
Department of Medical, Surgical Sciences and Advanced Technologies G.F. Ingrassia, University of Catania, 95123 Catania, Italy
Salvatore Cocuzza
Department of Medical, Surgical Sciences and Advanced Technologies G.F. Ingrassia, University of Catania, 95123 Catania, Italy
Jérôme René Lechien
Otology Study Group of the Young-Otolaryngologists of the International Federations of Oto-Rhino-Laryngological Societies (YO-IFOS), 75000 Paris, France
Giannicola Iannella
Otology Study Group of the Young-Otolaryngologists of the International Federations of Oto-Rhino-Laryngological Societies (YO-IFOS), 75000 Paris, France
Francois Simon
Otology Study Group of the Young-Otolaryngologists of the International Federations of Oto-Rhino-Laryngological Societies (YO-IFOS), 75000 Paris, France
Antonino Maniaci
Otology Study Group of the Young-Otolaryngologists of the International Federations of Oto-Rhino-Laryngological Societies (YO-IFOS), 75000 Paris, France
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. The characteristics of autosomal dominant non-syndromic HL are heterogenous. However, in most cases, HL tends to be bilateral, post-lingual in onset (childhood to early adulthood), high-frequency (sloping audiometric configuration), progressive, and variable in severity (mild to profound degree). DFNA1 (DIAPH1 gene) and DFNA6/14/38 (WFS1 gene) are the most common forms of autosomal dominant non-syndromic HL affecting low frequencies, while DFNA16 (unknown gene) is characterized by fluctuating HL. A long audiological follow-up is of paramount importance to identify hearing threshold deteriorations early and ensure prompt treatment with hearing aids or cochlear implants.
