DYT-AOPEP:来自印度的一系列病例扩大了临床和遗传谱
Debayan Dutta1, Jacky Ganguly1, Vikram Venkappayya Holla2
1Department of Neurology, Movement Disorder Centre, Institute of Neuroscience, Kolkata, India.
Parkinsonism & related disorders
|February 13, 2026
概括
DYT-AOPEP 是成人发病的基因原因,与AOPEP 基因变异有关. 三名患有这种罕见疾病的印度患者扩大了已知的临床遗传谱,突出了AOPEPEP.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 罕见疾病 罕见疾病
背景情况:
- DYT-AOPEP (氨基酶O) 或DYT31是一种罕见的,新发现的遗传原因,导致自体逆性单基因成人发病的隔离性 dystonia.
- 这项研究扩大了DYT-AOPEP的临床遗传谱,描述了三名印度患者在AOPEP基因中可能存在致病变体.
研究的目的:
- 描述三名印度患者的DYT-AOPEP,一个罕见的遗传原因的成人发病孤立的 dystonia.
- 通过识别AOPEP基因中可能存在的致病变异来扩大DYT-AOPEP的临床遗传谱.
主要方法:
- 临床表现和基因分析三名印度患者的成人发病隔离性 dystonia.
- 在AOPEP基因中识别同卵性拼接部位,停止增益和错误的停止增益变体.
- 对描述18名DYT-AOPEP患者的文献的审查.
主要成果:
- 三名印度患者出现了成人发病的普遍隔离性 dystonia,在医学上不耐药,但在一个病例中对 GPi-DBS 有反应.
- 在AOPEP基因中确定了同卵性变异:c.1916+1G>C (拼接部位),c.617dup (p.Tyr206*) (停止增益),和c.895C>T (p.Arg299*) (错误的停止增益).
- 文献综述表明,在DYT-AOPEP患者中,发病率可变,四肢发病的 dystonia,宫 dystonia (retrocollis),以及偶尔出现的帕金森症或高动力运动障碍.
结论:
- AOPEP是最近发现的与 dystonia 相关的基因,报告的致病变体数量越来越多.
- 这些发现支持将AOPEP纳入 dystonia基因组,并建议进行更广泛的人口查.
- 帕利达深脑刺激 (GPi-DBS) 是医疗耐药的DYT-AOPEP病例的潜在治疗选择.
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