Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Keywan, Christine, Poduri, Annapurna H, Goldstein, Richard D, Holm, Ingrid A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
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
_version_ 1783653308249931776
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
work_keys_str_mv AT keywanchristine geneticfactorsunderlyingsuddeninfantdeathsyndrome
AT poduriannapurnah geneticfactorsunderlyingsuddeninfantdeathsyndrome
AT goldsteinrichardd geneticfactorsunderlyingsuddeninfantdeathsyndrome
AT holmingrida geneticfactorsunderlyingsuddeninfantdeathsyndrome