遗传综合征在患有并发性神经发育障碍和白内障症的患者中很普遍
Amelle Shillington1, Katherine J Zappia2, Lori White1
1Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
American journal of medical genetics. Part A
|August 29, 2023
概括
在患有神经发育障碍的患者中,遗传检测经常能确定白内障的原因. 许多已识别的变体涉及调节神经递质信号的基因,这表明了猫头的分子基础.
科学领域:
- 神经遗传学 神经遗传学
- 临床遗传学 临床遗传学
- 神经精神病学是一种神经精神病学.
背景情况:
- 在患有神经发育障碍的个体中,经常会观察到catatonia.
- 了解这种人群中猫头的遗传基础对于诊断和治疗至关重要.
研究的目的:
- 评估临床遗传测试在患有同时出现神经发育障碍和白内障的患者的诊断产量.
- 在这个队列中识别与catatonia相关的潜在遗传变异.
主要方法:
- 在一个多学科的白内障诊所对患者的回顾性评估.
- 对临床遗传测试结果的分析,包括微阵列,PCR,扩展面板和外基因组测序.
- 对具有不确定的意义的变体 (VUS) 进行潜在诊断价值的审查.
主要成果:
- 在75%的评估患者 (36/48) 中进行了基因检测.
- 在42%的受试患者中发现了致病或可能致病的发现 (15/36).
- 经常发现GABA和谷氨基基质信号基因的变异,这表明它在猫头病理生理学中起着作用.
结论:
- 临床遗传检测是诊断神经发育障碍患者的猫症的一个有价值的工具.
- 神经递质系统的基因与在这个人群中观察到的触动症有关.
- 需要对更大的队列进行进一步的研究,以充分阐明神经发育障碍中卡塔托尼亚的遗传情景.
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