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Screening pathogenic gene mutation of a family with hypertrophic cardiomyopathy and atrial fibrillation using next generation sequencing / 二代测序技术筛查肥厚型心肌病伴房颤家系致病基因研究

Xi'an jiao tong da xue xue bao. Journal of Xi'an Jiaotong University (medical sciences). Yi xue ban, 2018-01 (6), p.922

Copyright Xi'an Jiaotong University 2018 ;ISSN: 1671-8259 ;DOI: 10.7652/jdyxb201806030

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  • Title:
    Screening pathogenic gene mutation of a family with hypertrophic cardiomyopathy and atrial fibrillation using next generation sequencing / 二代测序技术筛查肥厚型心肌病伴房颤家系致病基因研究
  • Author: DU, Yuan ; LUO, Ling ; WANG, Ya ; HAN, Xiu ; HAN, Ke ; Ai-qun, MA
  • Subjects: Cardiac arrhythmia ; Cardiomyopathy ; Mutation
  • Is Part Of: Xi'an jiao tong da xue xue bao. Journal of Xi'an Jiaotong University (medical sciences). Yi xue ban, 2018-01 (6), p.922
  • Description: Objective: To identify a potential pathogenic gene mutation among a family with hypertrophic cardiomyopathy (HCM) and atrial fibrillation (AF). Methods: Clinical data, family history, ECG, and echocardiogram were collected from the proband as well as family members. Genomic DNA was extracted from blood sample, and a gene panel related to hereditary cardiovascular diseases was detected using next-generation sequencing. Mutation identified in the proband was confirmed by Sanger sequencing in other family members and 100 healthy controls. The potential pathogenicity of the identified mutation was assessed by PolyPhen-2, SIFT and Mutation Taster software. Results: Three patients showed clinical symptoms related to the pathology. A novel PRDM16 gene c.3124G>A (p.G1042R) mutation was identified in the proband and several members in this family. However, this mutation was not found in the probands parent and the healthy controls, so it could be a de novo mutation. This mutation was located in a high evolutionary con
  • Publisher: Xi'an: Xi'an Jiaotong University
  • Language: Chinese
  • Identifier: ISSN: 1671-8259
    DOI: 10.7652/jdyxb201806030
  • Source: ProQuest Central
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