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在非综合征性儿科莫亚莫亚患者的遗传评估产量
Anna L Slingerland1, Dylan S Keusch1, Laura L Lehman2
1Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
概括
在非综合征性莫亚莫亚患者,特别是5岁以下患者的基因检测可以揭示可操作的突变. 这支持早期诊断和有针对性的查,以获得更好的患者结果.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 莫亚莫亚动脉病 (MA) 是一种罕见的脑血管疾病.
- 在非综合征性MA中进行遗传测试的指导方针是有限的.
- 了解基因测试的产量对于临床实践至关重要.
研究的目的:
- 评估基因检测在患有非综合征性Moyamoya动脉病变的儿科患者的诊断产量.
- 评估基因评估的测试前概率和临床实用性.
主要方法:
- 对接受再血管化手术的儿科莫亚莫亚患者 (2018-2022) 的回顾性审查.
- 排除患有MA综合征形式或先前部辐射的患者.
- 分析神经遗传转诊和随后的遗传检测结果.
主要成果:
- 分析了74名非综合征患者,18名患者被转诊进行遗传评估,11名患者接受了测试.
- 在有结果的8名患者中,有6名患者 (75%) 至少有一种遗传变异.
- 可采取行动的发现包括新的遗传疾病诊断 (1名患者),家庭查建议 (1名患者) 和癌症查转诊 (1名患者).
- 具有可操作发现的患者在手术时更年轻 (平均年龄为4.6岁),并且经常有发育迟缓.
结论:
- 儿科非综合征性莫亚莫亚患者的基因检测显示了可操作突变的高产量.
- 对5岁以下的患者,转诊进行基因查可能是有益的.
- 早期识别遗传变异可以指导进一步的查和管理.
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