Does p. Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?
Does p. Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?
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DOI：
10.1161/circresaha.114.302662
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发表时间：
2014-01-17
影响因子：
20.1
通讯作者：
Bilinska, Zofia T.
中科院分区：
文献类型：
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作者：
Ploski, Rafal;Pollak, Agnieszka;Bilinska, Zofia T.
理由：TRIM63 的变异体，包括无义突变 (p.Q247X)，最近被认为会导致肥厚型心肌病。目的：验证全外显子组测序检测到的 TRIM63 p.Q247X 的致病性，该运动员因例行检查时发现 QT 间期延长而寻求医疗建议。方法和结果：在先证者及其母亲中进行了临床研究。 TRIM63 p.Q247X。两人均未发现肥厚型心肌病的证据。 结论：TRIM63 中的 p.Q247X 变异不太可能是导致肥厚型心肌病的高渗透性变异。
Rationale: Variants in TRIM63, including a nonsense mutation (p.Q247X), have been suggested recently to cause hypertrophic cardiomyopathy.Objective: To verify pathogenicity of TRIM63 p.Q247X detected by whole-exome sequencing in a symptomless professional sports player seeking medical advice because of a prolonged QT interval found during a routine check-up.Methods and Results: Clinical studies were performed in the proband and his mother, who also carried TRIM63 p.Q247X. No evidence of hypertrophic cardiomyopathy was found in either person.Conclusions: The p.Q247X variant in TRIM63 is not likely to be a highly penetrant variant causing hypertrophic cardiomyopathy.