TRIM63 中的 p.Q247X 是否导致人类肥厚型心肌病？
Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?
机构信息
From the Department of Medical Genetics (R.P., J.K.) and Department of Immunology, Center for Biostructure Research (P.S.), Medical University of Warsaw, Warsaw, Poland; Institute of Physiology and Pathology of Hearing, Warsaw, Poland (A.P.); Medizinische Klinik 1, Leopoldina Krankenhaus, Schweinfurt, Germany (S.M., H.S.); and Laboratory of Molecular Biology (M.F.), Unit for Screening Studies in Inherited Cardiovascular Diseases (E.M., Z.T.B.), and Cardiac Magnetic Resonance Unit (M.S.), Institute of Cardiology, Warsaw, Poland.
出版信息
Circ Res. 2014 Jan 17;114(2):e2-5. doi: 10.1161/CIRCRESAHA.114.302662.
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.
背景
最近有研究提示，TRIM63 中的变异，包括无义突变（p.Q247X），可能导致肥厚型心肌病。
目的
验证在一位无症状的职业运动员因常规体检发现 QT 间期延长而寻求医疗建议时，通过全外显子测序检测到的 TRIM63 p.Q247X 是否具有致病性。
方法和结果
对先证者及其携带 TRIM63 p.Q247X 的母亲进行了临床研究。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外显率变异。
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