与MAGED2基因相关的X相关的过渡性产前巴特综合征:丰富表型描述和病理生理学调查
Alexandre Buffet1, Mathilde Filser2, Alexandra Bruel3
1Département de Médecine Génomique des Tumeurs et Cancers, Hôpital Européen Georges Pompidou, Fédération de Génétique et de Médecine Génomique Assistance Publique-Hôpitaux de Paris Centre Université Paris Cité, Paris, France; Université Paris Cité, Inserm, PARCC, Paris, France.
概括
由于MAGED2变异的过渡巴特特综合征在新生儿中严重. 这项研究分析了54例病例,揭示了多种结果,并确定MAGED2促进体中没有性别特异性甲基化,这表明女性不完全透的其他因素.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 新生儿科学 新生儿科学
背景情况:
- 与MAGED2基因中的致病变体相关的过渡巴特特综合征 (TBS) 是最近发现的产前巴特特综合征.
- 尽管TBS是短暂的,但它是围产期巴特综合征最严重的形式.
研究的目的:
- 描述14个与MAGED2相关的TBS新病例.
- 调查在女性患者中观察到的不完全透的潜在机制.
主要方法:
- 一系列病例报告了14名新患者,并对40例之前描述的病例进行了审查.
- 对所有报告病例中MAGED2基因变异的分析.
- 从胎儿和成人白细胞和脏样本中测序DNA,以评估促进体甲基化模式.
主要成果:
- 在54名有症状的患者中,27%的患者出现了自发解脱,41%的患者出现了持续的并发症,32%的患者死亡.
- 临床异常普遍存在 (76%),包括脏 (52%),心血管 (29%) 和异形特征 (13%). 在24%的患者中,发育迟缓被发现.
- MAGED2促进剂甲基化与性别相关,但与年龄,组织或症状无关,排除了女性不完全透的这种机制.
结论:
- 这项研究扩大了对MAGED2相关TBS的表型和遗传理解.
- 这些发现加深了对MAGED2.2的病理生理学作用和调节的洞察力.
- 描述的结果范围需要对受影响家庭的遗传咨询进行讨论.
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