Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing.
| العنوان: | Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing. |
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| المؤلفون: | Bard AM, Clark LV, Cosgun E, Aldinger KA, Timms A, Quina LA, Lavista Ferres JM, Jardine D, Haas EA, Becker TM, Pagan CM, Santani A, Martinez D, Barua S, McNutt Z, Nesbitt A, Mitchell EA, Ramirez JM |
| المصدر: | MedRxiv : the preprint server for health sciences [medRxiv] 2023 Nov 29. Date of Electronic Publication: 2023 Nov 29. |
| نوع المنشور: | Preprint |
| اللغة: | English |
| بيانات الدورية: | Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE |
| مستخلص: | Purpose: To gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Methods: Whole Genome Sequencing (WGS) was performed on 145 infants that succumbed to SUID, and 576 healthy adults. Variants were filtered by gnomAD allele frequencies and predictions of functional consequences. Results: Variants of interest were identified in 86 genes, 63.4% of our cohort. Seventy-one of these have been previously associated with SIDS/SUID/SUDP. Forty-three can be characterized as cardiac genes and are related to cardiomyopathies, arrhythmias, and other conditions. Variants in 22 genes were associated with neurologic functions. Variants were also found in 13 genes reported to be pathogenic for various systemic disorders. Variants in eight genes are implicated in the response to hypoxia and the regulation of reactive oxygen species (ROS) and have not been previously described in SIDS/SUID/SUDP. Seventy-two infants met the triple risk hypothesis criteria (Figure 1). Conclusion: Our study confirms and further expands the list of genetic variants associated with SUID. The abundance of genes associated with heart disease and the discovery of variants associated with the redox metabolism have important mechanistic implications for the pathophysiology of SUID. |
| التعليقات: | Update in: Am J Med Genet A. 2024 Jun 19:e63596. doi: 10.1002/ajmg.a.63596. (PMID: 38895864) |
| معلومات مُعتمدة: | P01 HL144454 United States HL NHLBI NIH HHS; R01 HL126523 United States HL NHLBI NIH HHS; R01 HL144801 United States HL NHLBI NIH HHS; R01 HL151389 United States HL NHLBI NIH HHS |
| تواريخ الأحداث: | Date Created: 20230925 Latest Revision: 20240701 |
| رمز التحديث: | 20240701 |
| مُعرف محوري في PubMed: | PMC10516094 |
| DOI: | 10.1101/2023.09.11.23295207 |
| PMID: | 37745463 |
| قاعدة البيانات: | MEDLINE |
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