Hearing and Hearing Loss Progression in Patients with GJB2 Gene Mutations: A Long-Term Follow-Up Article Swipe
Aki Sakata
,
Akinori Kashio
,
Misaki Koyama
,
Shinji Urata
,
Hajime Koyama
,
Tatsuya Yamasoba
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3390/ijms242316763
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3390/ijms242316763
We aimed to investigate whether the degree of hearing loss with GJB2 mutations could be predicted by distinguishing between truncating and non-truncating mutations and whether the genotype could predict the hearing loss level. Additionally, we examined the progression of hearing loss in individuals monitored for over 2 years for an average of 6.9 years. The proportion of truncating mutations was higher in patients with profound and severe hearing loss, but it was not accurate enough to predict the degree of hearing loss. Via genotype analysis, mutations of the p.Arg143Trp variants were associated with profound hearing loss, while mutations of the p.Leu79Cysfs*3 allele exhibited a wide range of hearing loss, suggesting that specific genotypes can predict the hearing loss level. Notably, there were only three cases of progression in four ears, all of which involved the p.Leu79Cysfs*3 mutation. Over the long-term follow-up, 4000 Hz was significant, and there was a trend of progression at 250 Hz, suggesting that close monitoring at these frequencies during follow-up may be crucial to confirm progression. The progression of hearing loss was observed in moderate or severe hearing loss cases at the time of the initial diagnosis, emphasizing that children with this level of hearing loss need regular follow-ups.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/ijms242316763
- https://www.mdpi.com/1422-0067/24/23/16763/pdf?version=1700993621
- OA Status
- gold
- Cited By
- 15
- References
- 44
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4389052421
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4389052421Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3390/ijms242316763Digital Object Identifier
- Title
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Hearing and Hearing Loss Progression in Patients with GJB2 Gene Mutations: A Long-Term Follow-UpWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-11-25Full publication date if available
- Authors
-
Aki Sakata, Akinori Kashio, Misaki Koyama, Shinji Urata, Hajime Koyama, Tatsuya YamasobaList of authors in order
- Landing page
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https://doi.org/10.3390/ijms242316763Publisher landing page
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https://www.mdpi.com/1422-0067/24/23/16763/pdf?version=1700993621Direct link to full text PDF
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://www.mdpi.com/1422-0067/24/23/16763/pdf?version=1700993621Direct OA link when available
- Concepts
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Hearing loss, Audiology, Genotype, Medicine, Allele, Genetics, Biology, GeneTop concepts (fields/topics) attached by OpenAlex
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15Total citation count in OpenAlex
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2025: 3, 2024: 12Per-year citation counts (last 5 years)
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10Other works algorithmically related by OpenAlex
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