Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis

Presbycusis
DOI: 10.1073/pnas.2010782117 Publication Date: 2020-11-24T02:42:10Z
ABSTRACT
Significance Presbycusis, or age-related hearing loss, is a major public health issue and the principal potentially modifiable risk factor for dementia. It caused by environmental factors largely uncharacterized genetic factors. We compared DNA sequences across genomic coding regions between familial sporadic cases of severe presbycusis controls with normal hearing. The frequency ultrarare predicted pathogenic variants in genes known to cause dominant early-onset forms deafness was significantly higher both than controls. Pathogenicity many these established complementary analyses. Ultrarare have large effect size are monogenic disorders. These findings open up possibilities curing gene therapy.
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