哪一个是第一个? 当Usher综合征1型伴侣有神经精神疾病时
Paola Tesolin1, Aurora Santin1, Anna Morgan2
1Department of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.
Audiology research
|December 22, 2023
概括
阿舍尔综合征 (USH) 患者可能会经历精神和行为变化. 本案例研究将CDH23基因变异与这些症状联系起来,强调需要对USH个体进行持续的心理监测.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 眼科医生 眼科 眼科
背景情况:
- 阿舍尔综合征 (USH) 是一种遗传性疾病,导致听力损失,视力障碍和平衡问题.
- 在USH患者中经常报告行为和心理健康障碍,但基本机制尚不清楚.
- CDH23基因与USH类型1有关,并与精神疾病有关.
研究的目的:
- 为了研究阿舍尔综合征患者精神病症状的遗传基础.
- 探索CDH23变体和心理/行为改变之间的潜在的基因型-表型相关性.
主要方法:
- 全外体测序 (WES) 用于分子诊断.
- 一名16岁男孩的临床评估,他患有先天性神经感官听力损失和行为变化.
主要成果:
- 在CDH23基因中发现了一种致病性同卵性变异 (c. 5985C>A, p.
- 患者出现了感官神经听力损失,视力敏度下降,以及突然的行为变化.
结论:
- CDH23基因变异可能导致阿舍尔综合征中观察到的精神症状.
- 持续的临床和心理监测对于早期发现和管理USH患者的行为问题至关重要.
- CDH23可能具有类效应,影响感官功能和精神健康.
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