对PCDH19患者的诊断和随访
Yanzhao Chen1, Yaming Xia2, Lipeng Chen3
1Department of Pediatrics.
Psychiatric genetics
|November 6, 2025
概括
整体外基因组测序诊断出发育性和性脑病变9 (DEE9) 在患有复发性的儿科患者中. 长期随访证实了治疗的有效性和正常的智力,突出了对非典型DEE9病例的基因测试.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 儿科 儿科 儿科
背景情况:
- 发育性和性脑病9 (DEE9) 是一种X相关疾病,导致婴儿发作的发作.
- 原型甲素19 (PCDH19) 基因的突变是DEE9.9的主要原因.
- 准确的诊断和管理对于受影响的儿童至关重要.
研究的目的:
- 详细介绍一个患有重复性发作的女性儿科患者的诊断旅程,归因于DEE9.9.
- 介绍长期随访和治疗结果.
- 评估基因测试在诊断非典型DEE9呈现的有用性.
主要方法:
- 复发性发作和异常EEG发现的临床表现.
- 在患者和父母身上进行全外体序列测序 (WES).
- 桑格测序用于变种验证.
主要成果:
- 鉴定出一种异性PCDH19变体 (NM_001105243:c.695A>G),证实了PCDH19-女性限性.
- 4年的随访显示智力正常,与此前报告的这种变种的表型形成鲜明对比.
- 对治疗策略的有效性进行了评估.
结论:
- 整体外基因组测序在诊断DEE9时是有效的,即使在异常症状的情况下也是如此.
- 长期随访表明了治疗的有效性,并突出了表型变异性.
- 在DEE9.9中,遗传检测为诊断,遗传咨询和治疗计划提供了关键信息.
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