Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.
Tmc1
age-related hearing loss
monogenic disorder
presbycusis
ultrarare variants
Journal
Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876
Informations de publication
Date de publication:
08 12 2020
08 12 2020
Historique:
pubmed:
25
11
2020
medline:
22
1
2021
entrez:
24
11
2020
Statut:
ppublish
Résumé
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 loss (mARHL) and simplex/sporadic age-related hearing loss (sARHL) cases and controls with normal hearing by whole-exome sequencing. Ultrarare variants (allele frequency [AF] < 0.0001) of 35 genes responsible for autosomal dominant early-onset forms of deafness, predicted to be pathogenic, were detected in 25.7% of mARHL and 22.7% of sARHL cases vs. 7.5% of controls (
Identifiants
pubmed: 33229591
pii: 2010782117
doi: 10.1073/pnas.2010782117
pmc: PMC7733833
doi:
Substances chimiques
Membrane Proteins
0
MicroRNAs
0
TMC1 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
31278-31289Déclaration de conflit d'intérêts
The authors declare no competing interest.
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