在中国人口中,OPA1相关的听力神经病变的独特遗传模式和自然史
Hongyang Wang1,2,3,4, Tao Shi1,2,3,4, Wenjia Wang1,2,3,4
1Senior Department of Otolaryngology Head and Neck Surgery, The 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, 100853, China.
Orphanet journal of rare diseases
|October 18, 2025
概括
与Opa1相关的疾病会导致听力神经病变 (AN),中国患者的遗传模式不同. 这项研究确定了OPA1变体,包括一种新的拼接变体,以及详细的听觉特征和表型.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 眼科医生 眼科 眼科
背景情况:
- 听力神经病变 (AN) 是OPA1相关疾病的临床表现.
- 诊断与OPA1相关的疾病是具有挑战性的,因为不同的表型和遗传模式.
- 本研究侧重于中国的AN队列,以界定与OPA1相关的患者特征.
研究的目的:
- 确定中国AN患者中OPA1变异的发生率.
- 分析与OPA1相关的AN的遗传模式和声学特征.
- 调查与OPA1相关的AN中的基因型-表型相关性.
主要方法:
- 使用高通量测序对452个无关联的AN探针进行分子遗传研究.
- 桑格测序用于验证试验者和父母的遗传结果.
- 对OPA1相关患者进行全面的听力评估和后续研究.
主要成果:
- 七个OPA1变异的试验对象 (1.55%) 在七个家族中被识别出来,显示出自体逆向和主导遗传 (包括 de novo).
- 在20岁之前发生了AN表型,在罕见的自体衰退病例中表现更严重.
- 发现了8种OPA1变异,包括一种新的拼接变异 (c.2013+5G>C);GTPase域中的误解变异很常见.
结论:
- 在中国人群中,与OPA1相关的AN表现出明显的遗传模式和可变的表型.
- 与OPA1相关的患者的听觉特征以AN为特征.
- 一种新的拼接变异扩大了与AN相关的OPA1变异的已知遗传谱.
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