在患有PRDM16哈普洛缺陷症的患者中扩展性心肌病
Clarisse Billon1, Gilles Millat2,3, Adeline Goudal4
1Service de Médecine Génomique Des Maladies Rares, Groupe Hospitalier Universitaire Centre, Hôpital Européen Georges Pompidou, 75015APHP, Paris, France. clarisse.billon@aphp.fr.
概括
在PRDM16基因中的功能丧失变异会导致扩张性心肌病和心脏超. 具有这些遗传变异的女性表现出更严重的症状和更早的发病,这表明PRDM16对心肌病的查.
科学领域:
- 遗传学 遗传学 是一个
- 心脏病学 心脏病学
- 分子生物学分子生物学
背景情况:
- PRDM16功能丧失 (LoF) 变体与心肌病有关.
- 之前的报道强调了与PRDM16 LoF变体相关的几个病例.
研究的目的:
- 提供最大的扩张性心肌病 (DCM) 患者队列与PRDM16LoF变体.
- 为了研究与PRDM16哈普洛缺陷相关的临床表型和预后.
主要方法:
- 多中心研究涉及4900个DCM和/或超结的索引病例.
- 59个基因的目标下一代测序,包括PRDM16.
- 对受影响家庭的遗传变异和临床数据的分析.
主要成果:
- 在9个家族中发现了11例与PRDM16LoF变体相关的心肌病症,此前没有报告.
- 患者呈现了DCM (10例) 和超 (6例),女性的中位年龄为18.5岁,男性为49岁.
- 女性,特别是儿科病例,预后较差,发病时间较早,表型更严重.
结论:
- PRDM16的哈普隆缺陷是扩张性心肌病和心脏超的重要原因.
- 女性表现出更严重的表型和更早的疾病发作.
- 对于患有DCM或有症状的心脏超结的患者,建议对PRDM16进行系统查.
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