Abstract
Clinical presentation is heterogeneous for autosomal dominant nonsyndromic hearing loss (ADNSHL). Variants of KCNQ4 gene is a common genetic factor of ADNSHL. Few studies have investigated the association between hearing impairment and the variant c.546C>G of KCNQ4. Here, we investigated the phenotype and clinical manifestations of the KCNQ4 variant. Study subjects were selected from the participants of the Taiwan Precision Medicine Initiative. In total, we enrolled 12 individuals with KCNQ4 c.546C>G carriers and 107 non-carriers, and performed pure tone audiometry (PTA) test and phenome-wide association (PheWAS) analysis for the patients. We found that c.546C>G variant was related to an increased risk of hearing loss. All patients with c.546C>G variant were aged >65 years and had sensorineural and high frequency hearing loss. Of these patients, a third (66.7%) showed moderate and progressive hearing loss, 41.7% complained of tinnitus and 16.7% complained of vertigo. Additionally, we found a significant association between KCNQ4 c.546C>G variant, aortic aneurysm, fracture of lower limb and polyneuropathy in diabetes. KCNQ4 c.546C>G is likely a potentially pathogenic variant of ADNSHL in the elderly population. Genetic counseling, annual audiogram and early assistive listening device intervention are highly recommended to prevent profound hearing impairment in this patient group.
Highlights
Hearing loss is a common disability worldwide, involving inherited sensory defects.The global prevalence of hearing impairment in 2008 was 1.4% for children aged 5–14 years, 12.2% for males >15 years of age, and 9.8% for females >15 years of age [1]
Cases likely have genetic etiology [2,3,4], and these are categorized as hereditary hearing impairments (HHIs)
These results suggested that KCNQ4 c.546C>G was the most common variant among those affected by autosomal dominant nonsyndromic hearing loss (ADNSHL) in the Taiwanese population
Summary
Hearing loss is a common disability worldwide, involving inherited sensory defects. The global prevalence of hearing impairment in 2008 was 1.4% for children aged 5–14 years, 12.2% for males >15 years of age, and 9.8% for females >15 years of age [1]. Hearing loss is classified into three types: sensorineural, mixed, and conductive. Sensorineural hearing impairment (SNHL) involves pathological conditions of the inner ear. It occurs in about 1.9 out of 1000 live births and in 2% of school-age children. More than half of childhood SNHL cases likely have genetic etiology [2,3,4], and these are categorized as hereditary hearing impairments (HHIs)
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