دورية أكاديمية
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
| العنوان: | Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. |
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| المؤلفون: | Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Charng WL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Current affiliation: Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA., Azamian M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Paine IS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Current affiliation: Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland., Valdes SO; Department of Pediatrics, Division of Cardiology, Texas Children's Hospital, Houston, Texas, USA., Cannon B; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA., Zapata G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Hernandez PP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Jhangiani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Doddapaneni H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Hu J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Boricha F; Department of Pediatrics, the University of Texas Health Science Center at Houston, Houston, Texas, USA., Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas, USA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Wehrens XHT; Department of Pediatrics, Division of Cardiology, Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA.; Cardiovascular Research Institute, Baylor College of Medicine, Houston, Texas, USA., Belmont JW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Division of Cardiology, Texas Children's Hospital, Houston, Texas, USA., Kim JJ; Department of Pediatrics, Division of Cardiology, Texas Children's Hospital, Houston, Texas, USA., Miyake CY; Department of Pediatrics, Division of Cardiology, Texas Children's Hospital, Houston, Texas, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA. |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jun; Vol. 182 (6), pp. 1387-1399. Date of Electronic Publication: 2020 Mar 31. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
| مواضيع طبية MeSH: | Genetic Predisposition to Disease*, AMP-Activated Protein Kinases/*genetics , Atrial Fibrillation/*genetics , Wolff-Parkinson-White Syndrome/*genetics, Adolescent ; Adult ; Ankyrins/genetics ; Atrial Fibrillation/pathology ; Carrier Proteins/genetics ; Child ; Cohort Studies ; Cytoskeletal Proteins/genetics ; DNA-Binding Proteins/genetics ; Female ; Genetic Association Studies ; Heart Atria/pathology ; Homeodomain Proteins/genetics ; Humans ; LIM Domain Proteins/genetics ; Male ; Mutation/genetics ; Transcription Factors/genetics ; Exome Sequencing ; Wolff-Parkinson-White Syndrome/pathology ; Young Adult ; Homeobox Protein PITX2 |
| مستخلص: | Background: Wolff-Parkinson-White (WPW) syndrome is a relatively common arrhythmia affecting ~1-3/1,000 individuals. Mutations in PRKAG2 have been described in rare patients in association with cardiomyopathy. However, the genetic basis of WPW in individuals with a structurally normal heart remains poorly understood. Sudden death due to atrial fibrillation (AF) can also occur in these individuals. Several studies have indicated that despite ablation of an accessory pathway, the risk of AF remains high in patients compared to general population. Methods: We applied exome sequencing in 305 subjects, including 65 trios, 80 singletons, and 6 multiple affected families. We used de novo analysis, candidate gene approach, and burden testing to explore the genetic contributions to WPW. Results: A heterozygous deleterious variant in PRKAG2 was identified in one subject, accounting for 0.6% (1/151) of the genetic basis of WPW in this study. Another individual with WPW and left ventricular hypertrophy carried a known pathogenic variant in MYH7. We found rare de novo variants in genes associated with arrhythmia and cardiomyopathy (ANK2, NEBL, PITX2, and PRDM16) in this cohort. There was an increased burden of rare deleterious variants (MAF ≤ 0.005) with CADD score ≥ 25 in genes linked to AF in cases compared to controls (P = .0023). Conclusions: Our findings show an increased burden of rare deleterious variants in genes linked to AF in WPW syndrome, suggesting that genetic factors that determine the development of accessory pathways may be linked to an increased susceptibility of atrial muscle to AF in a subset of patients. (© 2020 Wiley Periodicals, Inc.) |
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| معلومات مُعتمدة: | R35 NS105078 United States NS NINDS NIH HHS; K08 HG008986 United States HG NHGRI NIH HHS; T32 NS043124 United States NS NINDS NIH HHS; R01 NS058529 United States NS NINDS NIH HHS; K23 HL136932 United States HL NHLBI NIH HHS; UM1 HG006542 United States HG NHGRI NIH HHS; U54 HG003273 United States HG NHGRI NIH HHS |
| فهرسة مساهمة: | Keywords: ANK2; Wolff-Parkinson-White (WPW) syndrome; atrial fibrillation; exome sequencing |
| المشرفين على المادة: | 0 (ANK2 protein, human) 0 (Ankyrins) 0 (Carrier Proteins) 0 (Cytoskeletal Proteins) 0 (DNA-Binding Proteins) 0 (Homeodomain Proteins) 0 (LIM Domain Proteins) 0 (NEBL protein, human) 0 (PRDM16 protein, human) 0 (Transcription Factors) EC 2.7.11.1 (PRKAG2 protein, human) EC 2.7.11.31 (AMP-Activated Protein Kinases) |
| تواريخ الأحداث: | Date Created: 20200402 Date Completed: 20210128 Latest Revision: 20240214 |
| رمز التحديث: | 20240214 |
| مُعرف محوري في PubMed: | PMC7275694 |
| DOI: | 10.1002/ajmg.a.61571 |
| PMID: | 32233023 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.61571 |