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Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.

Human genetics - 1 Jun 2021

Ahmadmehrabi Shadi, Li Binglan, Park Joseph, Devkota Batsal, Vujkovic Marijana, Ko Yi-An, Van Wagoner David, Tang W H Wilson, Krantz Ian, Ritchie Marylyn, Brant Jason, Ruckenstein Michael J, Epstein Douglas J, Rader Daniel J

Abstract excerpt

While newborns and children with hearing loss are routinely offered genetic testing, adults are rarely clinically tested for a genetic etiology. One clinically actionable result from genetic testing in children is the discovery of variants in syndromic hearing loss genes. EYA4 is a known hearing loss gene which is also involved in important pathways in cardiac tissue. The pleiotropic effects of rare EYA4 variants...

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PMID: 33745059
DOI: 10.1007/s00439-021-02263-6

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