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在1型肌性营养不良症中出现的初级缺血:初始呈现与整个基因组测序的偶然发现
Jenna Damon1, Colby Chase1, Tomoyasu Higashimoto1,2
1Department of Internal Medicine, Division of Genetic Medicine, University of Michigan, Ann Arbor, Michigan, USA.
American journal of medical genetics. Part A
|May 6, 2024
概括
1型肌性缩症在女性中可能伴有原发性异常,这表明潜在的阴性缩症. 这一案例突出了这种遗传性疾病的罕见初始症状.
科学领域:
- 遗传学 是一个遗传学.
- 内分泌学 在内分泌学.
- 生殖医学 生殖医学
背景情况:
- 肌肉性缩症1型 (DM1) 是一种自体主导性疾病,是由DMPK基因中CTG重复扩张引起的.
- 虽然在DM1中识别了男性阴性双胞胎症,但其对女性生殖功能的影响尚不清楚.
- 初级缺血是指在15岁之前没有开始月经的情况.
研究的目的:
- 调查1型肌性缩症与年轻女性初级异常止痛之间潜在的联系.
- 为了探索女性低子体的表现在1型肌性缩症中的表现.
- 提出第一个报告的初级 amenorrhea 病例作为 DM1 的症状.
主要方法:
- 基因评估包括全基因组测序.
- 对DMPK基因中CTG重复扩张的分析.
- 对1型肌肉性缩症症状的临床评估.
主要成果:
- 一名19岁的女性出现了初级异常流产.
- 全基因组测序揭示了DMPK基因的CTG重复扩张 (≥100次重复),诊断出1型肌肉性缩症.
- 患者在其他情况下为DM1无症状,在IGSF10中确定了初始不确定的意义变异.
结论:
- 初级异常流血可以是1型肌性衰竭的表现特征.
- 这个案例提供了证据,证明女性阴性双胞胎缺陷症是DM1.0的潜在症状.
- 早期遗传诊断至关重要,即使是异常呈现.
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