Article ; Online: A
2020
Abstract: Background: Hearing loss is one of the most prevalent disabilities worldwide, and has a significant impact on quality of life. The adult-onset type of the condition is highly heritable but the genetic causes are largely unknown, which is in contrast to ... ...
Abstract | Background: Hearing loss is one of the most prevalent disabilities worldwide, and has a significant impact on quality of life. The adult-onset type of the condition is highly heritable but the genetic causes are largely unknown, which is in contrast to childhood-onset hearing loss. Methods: Family and cohort studies included exome sequencing and characterisation of the hearing phenotype. Ex vivo protein expression addressed the functional effect of a DNA variant. Results: An in-frame deletion of 12 nucleotides in Conclusion: Collectively, the presented data demonstrate that an inherited form of adult-onset hearing loss is relatively common, with potentially thousands of individuals at risk in the Netherlands and beyond, which makes it an attractive target for developing a (genetic) therapy. |
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Language | English |
Publishing date | 2020-07-06 |
Publishing country | England |
Document type | Journal Article |
ZDB-ID | 220881-7 |
ISSN | 1468-6244 ; 0022-2593 |
ISSN (online) | 1468-6244 |
ISSN | 0022-2593 |
DOI | 10.1136/jmedgenet-2020-106863 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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