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      Genetic Factors Underlying Sudden Infant Death Syndrome

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          Abstract

          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.

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          Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

          Sue Richards, Nazneen Aziz, Sherri Bale … (2015)
          The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants. 1 In the past decade, sequencing technology has evolved rapidly with the advent of high-throughput next generation sequencing. By adopting and leveraging next generation sequencing, clinical laboratories are now performing an ever increasing catalogue of genetic testing spanning genotyping, single genes, gene panels, exomes, genomes, transcriptomes and epigenetic assays for genetic disorders. By virtue of increased complexity, this paradigm shift in genetic testing has been accompanied by new challenges in sequence interpretation. In this context, the ACMG convened a workgroup in 2013 comprised of representatives from the ACMG, the Association for Molecular Pathology (AMP) and the College of American Pathologists (CAP) to revisit and revise the standards and guidelines for the interpretation of sequence variants. The group consisted of clinical laboratory directors and clinicians. This report represents expert opinion of the workgroup with input from ACMG, AMP and CAP stakeholders. These recommendations primarily apply to the breadth of genetic tests used in clinical laboratories including genotyping, single genes, panels, exomes and genomes. This report recommends the use of specific standard terminology: ‘pathogenic’, ‘likely pathogenic’, ‘uncertain significance’, ‘likely benign’, and ‘benign’ to describe variants identified in Mendelian disorders. Moreover, this recommendation describes a process for classification of variants into these five categories based on criteria using typical types of variant evidence (e.g. population data, computational data, functional data, segregation data, etc.). Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends that clinical molecular genetic testing should be performed in a CLIA-approved laboratory with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or equivalent.
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            HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013.

            Antoine Leenhardt, Arthur A Wilde, Gordon Tomaselli … (2013)
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              A functional polymorphism in the monoamine oxidase A gene promoter.

              S Sabol, Stella Hu, D. Hamer (1998)
              We describe a new polymorphism upstream of the gene for monoamine oxidase A (MAOA), an important enzyme in human physiology and behavior. The polymorphism, which is located 1.2 kb upstream of the MAOA coding sequences, consists of a 30-bp repeated sequence present in 3, 3.5, 4, or 5 copies. The polymorphism is in linkage disequilibrium with other MAOA and MAOB gene markers and displays significant variations in allele frequencies across ethnic groups. The polymorphism has been shown to affect the transcriptional activity of the MAOA gene promoter by gene fusion and transfection experiments involving three different cell types. Alleles with 3.5 or 4 copies of the repeat sequence are transcribed 2-10 times more efficiently than those with 3 or 5 copies of the repeat, suggesting an optimal length for the regulatory region. This promoter region polymorphism may be useful as both a functional and an anonymous genetic marker for MAOA.
              Article 0 comments Cited 198 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Appl Clin Genet
                Journal ID (iso-abbrev): Appl Clin Genet
                Journal ID (publisher-id): tacg
                Journal ID (pmc): tacg
                Title: The Application of Clinical Genetics
                Publisher: Dove
                ISSN (Electronic): 1178-704X
                Publication date (Electronic): 15 February 2021
                Publication date Collection: 2021
                Volume: 14
                Pages: 61-76
                Affiliations
                [1 ]Robert’s Program for Sudden Unexpected Death in Pediatrics, Boston Children’s Hospital , Boston, MA, USA
                [2 ]F.M. Kirby Neurobiology Center, Boston Children’s Hospital , Boston, MA, USA
                [3 ]Epilepsy Genetics Program, Department of Neurology, Boston Children’s Hospital and Harvard Medical School , Boston, MA, USA
                [4 ]Broad Institute of MIT and Harvard , Cambridge, MA, USA
                [5 ]Department of Neurology, Harvard Medical School , Boston, MA, USA
                [6 ]Department of Pediatrics, Harvard Medical School , Boston, MA, USA
                [7 ]Division of General Pediatrics, Department of Pediatrics, Boston Children’s Hospital , Boston, MA, USA
                [8 ]Division of Genetics and Genomics, Department of Pediatrics, and Manton Center for Orphan Diseases Research, Boston Children’s Hospital , Boston, MA, USA
                Author notes
                Correspondence: Ingrid A Holm Boston Children's Hospital, Division of Genetics and Genomics , 3 Blackfan Circle, Mailstop BCH3150, Boston, MA02115, USA Email ingrid.holm@childrens.harvard.edu
                Article
                Publisher ID: 239478
                DOI: 10.2147/TACG.S239478
                PMC ID: 7894824
                PubMed ID: 33623412
                SO-VID: 9730c411-78bc-4e38-ad56-5adb0a61aa30
                Copyright © © 2021 Keywan et al.
                License:

                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).

                History
                Date received : 02 November 2020
                Date accepted : 24 January 2021
                Page count
                Figures: 0, Tables: 1, References: 151, Pages: 16
                Categories
                Subject: Review

                Keywords: sids,suid,sudden infant death,gene,genetic,review
                Data availability:
                Keywords: sids, suid, sudden infant death, gene, genetic, review

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