当疾病基因中只有一个显性等位基因足以表达表型时，通常会发生常染色体显性非综合征性听力损失（HL）。因此,大多数被诊断为常染色体显性遗传非综合征HL的患者都有听力受损的父母，尽管在所有阴性家族史的病例中都应考虑从头突变。迄今为止,已鉴定出常染色体显性遗传的非综合征HL的50多个基因和80个基因座。DFNA22（MYO6基因），DFNA8/12（TECTA基因），DFNA20/26（ACTG1基因），DFNA6/14/38（WFS1基因），DFNA15（POU4F3基因），DFNA2A（KCNQ4基因），和DFNA10（EYA4基因）是常染色体显性遗传非综合征HL的一些最常见形式。常染色体显性遗传的非综合征HL的特征是异质的。然而,在大多数情况下,HL往往是双边的，语言后发病（童年至成年早期），高频（倾斜测听配置），进步,和不同的严重程度（轻度至深度）。DFNA1（DIAPH1基因）和DFNA6/14/38（WFS1基因）是影响低频的常染色体显性遗传非综合征性HL的最常见形式，而DFNA16（未知基因）的特征是HL波动。长期的听力学随访对于及早发现听力阈值恶化并确保及时使用助听器或人工耳蜗进行治疗至关重要。
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.
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