与TRIM63的变体相关的自体递归性缩性心肌病变异
Francesca Bonanni1, Adelaide Ballerini2, Alessia Gozzini2
1Cardiology Unit, Meyer Children's Hospital IRCCS, Florence, Italy; Health Science Interdisciplinary Center, Scuola Superiore Sant'Anna, Pisa, Italy.
International journal of cardiology
|November 7, 2025
概括
衰退性缩性心肌病 (HCM) 可能是由罕见的TRIM63基因变异引起的. 识别这些双基TRIM63变体对于早期诊断和受影响个体的积极临床监测至关重要.
科学领域:
- 心脏病学 心脏病学
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
背景情况:
- 超性心肌病 (HCM) 主要与sarcomeric基因中的主导变异有关.
- 罕见的基因,如TRIM63,正在成为衰退性HCM的潜在原因.
- TRIM63编码了一种E3无素蛋白联酶,它参与了蛋白质降解途径.
研究的目的:
- 为了研究TRIM63变体在高伤性心肌病的病因学中的作用.
- 为了识别由双基TRIM63突变引起的衰退性HCM患者.
- 描述与TRIM63相关的HCM相关的临床表型.
主要方法:
- 下一代测序在517名患有临床HCM的成年患者身上进行.
- 分析的重点是识别TRIM63基因中的双变异.
- 审查了临床数据,包括疾病发病,心脏形态,纤维化和心室功能.
主要成果:
- 在517名患者中,确定了6例双基TRIM63变体的指数病例 (四种同性,两种复合异性).
- 与TRIM63相关的HCM呈现出早期发病,明显的集中性缩,扩散性心肌纤维化和渐进的左心室功能障碍.
- 在异合体亲属中没有观察到心脏病,这表明了递归遗传模式.
结论:
- 与TRIM63相关的多变性心肌病是一种罕见的,但在临床上是不同的实体.
- 早期识别双基TRIM63变体对于准确诊断至关重要.
- 对于与TRIM63相关的HCM确诊的个体,需要进行积极的临床监测.
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