Health
Common genetic variants identified as a frequent cause of hearing loss in adults
Common hereditary genetic variants are a frequent cause of hearing loss in adults, meaning that thousands of people are potentially at risk. Journal of Medical Genetics..
Adult hearing loss is known to be inherited. But unlike when I was a kid Deafness, Genetic cause According to researchers, their discovery made it Gene therapy..
Hearing loss is one of the most common disorders in the world and has a major impact on quality of life. To date, 118 genes have been associated with hereditary forms. Variants of these genes account for the majority of congenital and childhood hearing loss, but not adult hearing loss.
This is despite the fact that 30% to 70% of adult hearing loss is believed to be inherited.
Researchers have already discovered a chromosomal region involved in hearing loss in one family, but not the genes involved.
To investigate this further, they sequenced this family with hearing loss in one or both ears and the other 11 families (200 total).
Each family underwent a general ear, nose, and throat examination, and hearing was examined in both ears.
Gene sequencing of the first family revealed defective sections of the RIPOR2 gene in 20 of 23 Family members Deafness has been confirmed.
However, this genetic variation was also found in three other families at the ages of 23, 40, and 51 who were still deaf.
This has led researchers to perform medical and hearing tests similar to gene sequencing in an additional 11 families affected by hearing loss.
The same genetic variation was found in 39 of the 40 families with confirmed hearing loss and in two individuals aged 49 and 50 who were unaffected by hearing loss.
In addition, RIPOR2 genetic variation was found in 18 out of 22,952 randomly selected individuals with no information on hearing loss.
four family Members with deafness did not carry the RIPOR2 genetic mutation. Researchers have suggested that their deafness may be associated with heavy smoking or genetic abnormalities other than RIPOR2.
Although the specific symptoms of this genetically-induced hearing loss varied, as did the age at which the hearing loss began, its prevalence was what it was common (high penetrance) and, as a result, what Researchers explain that thousands of people may be at risk of hearing loss.
Based on their findings, researchers estimate that the RIPOR2 genetic mutation is likely to be present in the Netherlands alone. [hearing loss] Or who developed it[[[[Hearing Loss]is already due to this variant. “
And they suggest that an additional 30,000 people in Northern Europe are likely to carry this genetic mutation, and thus are at risk of hearing loss.
“A large number of subjects [Deafness]Because of the c.1696_1707 del RIPOR2 variant, it is an attractive target for the development of gene therapy,” they conclude.
In-frame deletion of RIPOR2 is a frequent and pervasive cause of adult-onset hearing loss. Journal of Medical Genetics, DOI: 10.1136 / jmedgenet-2020-106863
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British Medical Journal
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