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Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the β-myosin heavy chain

  • Peng Zhao (a1), Hong-Li Cui (a2), Ting-Ting He (a2), Ji-Gang Wang (a1), Dong Wang (a3), Xin-Xing Feng (a3), Yu-Bao Zou (a3), Yi-Lu Wang (a3), Ji-Zheng Wang (a3), Ru-Tai Hui (a3) and Lei Song (a3)...
Abstract

The present study was performed to identify the genotype of a hypertrophic cardiomyopathy family and investigate the clinicopathogenic characteristics and prognostic features of relevant genetic abnormalities. Target sequence capture sequencing was performed to screen for pathogenic alleles in a 32-year-old female patient (proband). Sanger sequencing was carried out to verify the results. Sanger sequencing was also performed on other family members to identify allele carriers. A survival analysis was carried out using published literature and our findings. We found that the proband and her son harboured a Gly716Arg sequence variant of the β-myosin heavy chain. Neither the proband’s father nor the mother were carriers of this sequence variant; thus, the mutation was classified as “de novo”. Further survival analysis revealed that female patients appear to have a longer life expectancy compared with males. Our study may provide an effective approach for the genetic diagnosis of hypertrophic cardiomyopathy.

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Corresponding author
Correspondence to: Dr J.-G. Wang, Department of Pathology, The Affiliated Hospital of Qingdao University, No. 16 Jiangsu Road, Qingdao 266003, China. Tel: +86 532 8291 9353; Fax: +86 532 8291 9900; E-mail: qdwangjigang@hotmail.com
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Cardiology in the Young
  • ISSN: 1047-9511
  • EISSN: 1467-1107
  • URL: /core/journals/cardiology-in-the-young
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