Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review
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 sho...
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MDPI AG
2023-06-01
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| Series: | Biomedicines |
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| Online Access: | https://www.mdpi.com/2227-9059/11/6/1616 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Mirko Aldè |
| collection | DOAJ |
| description | 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 (<i>MYO6</i> gene), DFNA8/12 (<i>TECTA</i> gene), DFNA20/26 (<i>ACTG1</i> gene), DFNA6/14/38 (<i>WFS1</i> gene), DFNA15 (<i>POU4F3</i> gene), DFNA2A (<i>KCNQ4</i> gene), and DFNA10 (<i>EYA4</i> 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 (<i>DIAPH1</i> gene) and DFNA6/14/38 (<i>WFS1</i> 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. |
| first_indexed | 2024-03-11T02:44:58Z |
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| institution | Directory Open Access Journal |
| issn | 2227-9059 |
| language | English |
| last_indexed | 2024-03-11T02:44:58Z |
| publishDate | 2023-06-01 |
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| spelling | doaj.art-a2fe1e0975ec4b3fa4f79ace85c4274a2023-11-18T09:25:48ZengMDPI AGBiomedicines2227-90592023-06-01116161610.3390/biomedicines11061616Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative ReviewMirko Aldè0Giovanna Cantarella1Diego Zanetti2Lorenzo Pignataro3Ignazio La Mantia4Luigi Maiolino5Salvatore Ferlito6Paola Di Mauro7Salvatore Cocuzza8Jérôme René Lechien9Giannicola Iannella10Francois Simon11Antonino Maniaci12Department of Clinical Sciences and Community Health, University of Milan, 20090 Milan, ItalyDepartment of Clinical Sciences and Community Health, University of Milan, 20090 Milan, ItalyDepartment of Clinical Sciences and Community Health, University of Milan, 20090 Milan, ItalyDepartment of Clinical Sciences and Community Health, University of Milan, 20090 Milan, ItalyDepartment of Medical, Surgical Sciences and Advanced Technologies G.F. Ingrassia, University of Catania, 95123 Catania, ItalyDepartment of Medical, Surgical Sciences and Advanced Technologies G.F. Ingrassia, University of Catania, 95123 Catania, ItalyDepartment of Medical, Surgical Sciences and Advanced Technologies G.F. Ingrassia, University of Catania, 95123 Catania, ItalyDepartment of Medical, Surgical Sciences and Advanced Technologies G.F. Ingrassia, University of Catania, 95123 Catania, ItalyDepartment of Medical, Surgical Sciences and Advanced Technologies G.F. Ingrassia, University of Catania, 95123 Catania, ItalyOtology Study Group of the Young-Otolaryngologists of the International Federations of Oto-Rhino-Laryngological Societies (YO-IFOS), 75000 Paris, FranceOtology Study Group of the Young-Otolaryngologists of the International Federations of Oto-Rhino-Laryngological Societies (YO-IFOS), 75000 Paris, FranceOtology Study Group of the Young-Otolaryngologists of the International Federations of Oto-Rhino-Laryngological Societies (YO-IFOS), 75000 Paris, FranceOtology Study Group of the Young-Otolaryngologists of the International Federations of Oto-Rhino-Laryngological Societies (YO-IFOS), 75000 Paris, FranceAutosomal 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 (<i>MYO6</i> gene), DFNA8/12 (<i>TECTA</i> gene), DFNA20/26 (<i>ACTG1</i> gene), DFNA6/14/38 (<i>WFS1</i> gene), DFNA15 (<i>POU4F3</i> gene), DFNA2A (<i>KCNQ4</i> gene), and DFNA10 (<i>EYA4</i> 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 (<i>DIAPH1</i> gene) and DFNA6/14/38 (<i>WFS1</i> 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.https://www.mdpi.com/2227-9059/11/6/1616genetic hearing lossautosomal dominant inheritancenon-syndromic hearing lossgenesloci |
| spellingShingle | 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 (DFNA): A Comprehensive Narrative Review Biomedicines genetic hearing loss autosomal dominant inheritance non-syndromic hearing loss genes loci |
| title | Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review |
| title_full | Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review |
| title_fullStr | Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review |
| title_full_unstemmed | Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review |
| title_short | Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review |
| title_sort | autosomal dominant non syndromic hearing loss dfna a comprehensive narrative review |
| topic | genetic hearing loss autosomal dominant inheritance non-syndromic hearing loss genes loci |
| url | https://www.mdpi.com/2227-9059/11/6/1616 |
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