Academic Journal
Low disease risk and penetrance in Leber hereditary optic neuropathy
| العنوان: | Low disease risk and penetrance in Leber hereditary optic neuropathy |
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| المؤلفون: | Watson, E.C., Davis, R.L., Ravishankar, S., Copty, J., Kummerfeld, S., Sue, C.M. |
| المصدر: | http://dx.doi.org/10.1016/j.ajhg.2022.11.013. |
| بيانات النشر: | Elsevier BV |
| سنة النشر: | 2023 |
| المجموعة: | The University of Adelaide: Digital Library |
| مصطلحات موضوعية: | Humans, Optic Atrophy, Hereditary, Leber, DNA, Mitochondrial, Risk Factors, Penetrance, Mutation |
| الوصف: | The risk of Leber hereditary optic neuropathy (LHON) has largely been extrapolated from disease cohorts, which underestimate the population prevalence of pathogenic primary LHON variants as a result of incomplete disease penetrance. Understanding the true population prevalence of primary LHON variants, alongside the rate of clinical disease, provides a better understanding of disease risk and variant penetrance. We identified pathogenic primary LHON variants in whole-genome sequencing data of a well-characterized population- based control cohort and found that the prevalence is far greater than previously estimated, as it occurs in approximately 1 in 800 individuals. Accordingly, we were able to more accurately estimate population risk and disease penetrance in LHON variant carriers, validating our findings by using other large control datasets. These findings will inform accurate counseling in relation to the risk of vision loss in LHON variant carriers and disease manifestation in their family. This Matters Arising paper is in response to Lopez Sanchez et al. (2021), published in The American Journal of Human Genetics. See also the response by Mackey et al. (2022), published in this issue. ; Eloise C. Watson, Ryan L. Davis, Shyamsundar Ravishankar, Joseph Copty, Sarah Kummerfeld, and Carolyn M. Sue |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0002-9297 1537-6605 |
| Relation: | http://purl.org/au-research/grants/nhmrc/1136800; American Journal of Human Genetics, 2023; 110(1):166-169; https://hdl.handle.net/2440/138052; Ravishankar, S. [0000-0003-3006-6134] |
| DOI: | 10.1016/j.ajhg.2022.11.013 |
| الاتاحة: | https://hdl.handle.net/2440/138052 https://doi.org/10.1016/j.ajhg.2022.11.013 |
| Rights: | © 2022 The Authors. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
| رقم الانضمام: | edsbas.7C24D136 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 00029297 15376605 |
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| DOI: | 10.1016/j.ajhg.2022.11.013 |