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Genetic Factors Underlying Sudden Infant Death Syndrome
Sudden Infant Death syndrome (SIDS) is a diagnosis of exclusion. Decades of research have made steady gains in understanding plausible mechanisms of terminal events. Current evidence suggests SIDS includes heterogeneous biological conditions, such as metabolic, cardiac, neurologic, respiratory, and...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7894824/ https://www.ncbi.nlm.nih.gov/pubmed/33623412 http://dx.doi.org/10.2147/TACG.S239478 |
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author | Keywan, Christine Poduri, Annapurna H Goldstein, Richard D Holm, Ingrid A |
author_facet | Keywan, Christine Poduri, Annapurna H Goldstein, Richard D Holm, Ingrid A |
author_sort | Keywan, Christine |
collection | PubMed |
description | Sudden Infant Death syndrome (SIDS) is a diagnosis of exclusion. Decades of research have made steady gains in understanding plausible mechanisms of terminal events. Current evidence suggests SIDS includes heterogeneous biological conditions, such as metabolic, cardiac, neurologic, respiratory, and infectious conditions. Here we review genetic studies that address each of these areas in SIDS cases and cohorts, providing a broad view of the genetic underpinnings of this devastating phenomenon. The current literature has established a role for monogenic genetic causes of SIDS mortality in a subset of cases. To expand upon our current knowledge of disease-causing genetic variants in SIDS cohorts and their mechanisms, future genetic studies may employ functional assessments of implicated variants, broader genetic tests, and the inclusion of parental genetic data and family history information. |
format | Online Article Text |
id | pubmed-7894824 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Dove |
record_format | MEDLINE/PubMed |
spelling | pubmed-78948242021-02-22 Genetic Factors Underlying Sudden Infant Death Syndrome Keywan, Christine Poduri, Annapurna H Goldstein, Richard D Holm, Ingrid A Appl Clin Genet Review Sudden Infant Death syndrome (SIDS) is a diagnosis of exclusion. Decades of research have made steady gains in understanding plausible mechanisms of terminal events. Current evidence suggests SIDS includes heterogeneous biological conditions, such as metabolic, cardiac, neurologic, respiratory, and infectious conditions. Here we review genetic studies that address each of these areas in SIDS cases and cohorts, providing a broad view of the genetic underpinnings of this devastating phenomenon. The current literature has established a role for monogenic genetic causes of SIDS mortality in a subset of cases. To expand upon our current knowledge of disease-causing genetic variants in SIDS cohorts and their mechanisms, future genetic studies may employ functional assessments of implicated variants, broader genetic tests, and the inclusion of parental genetic data and family history information. Dove 2021-02-15 /pmc/articles/PMC7894824/ /pubmed/33623412 http://dx.doi.org/10.2147/TACG.S239478 Text en © 2021 Keywan et al. http://creativecommons.org/licenses/by-nc/3.0/ This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). |
spellingShingle | Review Keywan, Christine Poduri, Annapurna H Goldstein, Richard D Holm, Ingrid A Genetic Factors Underlying Sudden Infant Death Syndrome |
title | Genetic Factors Underlying Sudden Infant Death Syndrome |
title_full | Genetic Factors Underlying Sudden Infant Death Syndrome |
title_fullStr | Genetic Factors Underlying Sudden Infant Death Syndrome |
title_full_unstemmed | Genetic Factors Underlying Sudden Infant Death Syndrome |
title_short | Genetic Factors Underlying Sudden Infant Death Syndrome |
title_sort | genetic factors underlying sudden infant death syndrome |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7894824/ https://www.ncbi.nlm.nih.gov/pubmed/33623412 http://dx.doi.org/10.2147/TACG.S239478 |
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