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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Published in:Biomedicines 2023-06, Vol.11 (6), p.1616
Main Authors: Aldè, Mirko, Cantarella, Giovanna, Zanetti, Diego, Pignataro, Lorenzo, La Mantia, Ignazio, Maiolino, Luigi, Ferlito, Salvatore, Di Mauro, Paola, Cocuzza, Salvatore, Lechien, Jérôme René, Iannella, Giannicola, Simon, Francois, Maniaci, Antonino
Format: Article
Language:English
Subjects:
autosomal dominant inheritance
Children
Chromosomes
Cochlea
Cytomegalovirus
Genes
Genetic aspects
genetic hearing loss
Health aspects
Hearing loss
Hearing protection
KCNQ4 protein
loci
Mutation
MYO6 gene
non-syndromic hearing loss
Phenotypes
Potassium channels (voltage-gated)
Review
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Summary: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 ( gene), DFNA8/12 ( gene), DFNA20/26 ( gene), DFNA6/14/38 ( gene), DFNA15 ( gene), DFNA2A ( gene), and DFNA10 ( 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 ( gene) and DFNA6/14/38 ( 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.
ISSN:2227-9059
2227-9059
DOI:10.3390/biomedicines11061616