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Article

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.

Scientific reports - 10 Apr 2020

Morín Matias, Borreguero Lucía, Booth Kevin T, Lachgar María, Huygen Patrick, Villamar Manuela, Mayo Fernando, Barrio Luis Carlos, Santos Serrão de Castro Luciana, Morales Carmelo, Del Castillo Ignacio, Arellano Beatriz, Tellería Dolores, Smith Richard J H, Azaiez Hela, Moreno Pelayo M A

Abstract excerpt

The mutational spectrum of many genes and their contribution to the global prevalence of hereditary hearing loss is still widely unknown. In this study, we have performed the mutational screening of EYA4 gene by DHLPC and NGS in a large cohort of 531 unrelated Spanish probands and one Australian family with autosomal dominant non-syndromic hearing loss (ADNSHL). In total, 9 novel EYA4 variants have been...

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Identifiers

PMID: 32277154
DOI: 10.1038/s41598-020-63256-5
PMCID: PMC7148344

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