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

doi:10.1073/pnas.2010782117

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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 8 Dec 2020

Boucher Sophie, Tai Fabienne Wong Jun, Delmaghani Sedigheh, Lelli Andrea, Singh-Estivalet Amrit, Dupont Typhaine, Niasme-Grare Magali, Michel Vincent, Wolff Nicolas, Bahloul Amel, Bouyacoub Yosra, Bouccara Didier, Fraysse Bernard, Deguine Olivier, Collet Lionel, Thai-Van Hung, Ionescu Eugen, Kemeny Jean-Louis, Giraudet Fabrice, Lavieille Jean-Pierre, Devèze Arnaud, Roudevitch-Pujol Anne-Laure, Vincent Christophe, Renard Christian, Franco-Vidal Valérie, Thibult-Apt Claire, Darrouzet Vincent, Bizaguet Eric, Coez Arnaud, Aschard Hugues, Michalski Nicolas, Lefevre Gaëlle M, Aubois Anne, Avan Paul, Bonnet Crystel, Petit Christine

Abstract excerpt

Presbycusis, or age-related hearing loss (ARHL), is a major public health issue. About half the phenotypic variance has been attributed to genetic factors. Here, we assessed the contribution to presbycusis of ultrarare pathogenic variants, considered indicative of Mendelian forms. We focused on severe presbycusis without environmental or comorbidity risk factors and studied multiplex family age-related hearing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33229591
DOI: 10.1073/pnas.2010782117
PMCID: PMC7733833

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