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没有发育回归的MECP2-关联雷特综合征-一个病例系列

Alexandra Morgan^1,2, Alice Pham¹, Sydni Beeley¹

¹Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, NC, USA.

Journal of child neurology

|March 12, 2026

概括

基因检测显示,MECP2相关的雷特综合征 (RS) 在四个女孩的全球发育迟缓. 这些病例显示了RS的非典型表现,强调了发展障碍的广泛基因组测序.

科学领域:

遗传学是一个遗传学.
儿科儿科儿科
神经学神经学

背景情况:

神经发育障碍需要持续的临床表型扩展.
基因测试的进步对于阐明新的临床标准至关重要.
全球发育迟缓是专门诊所常见的转诊原因.

研究的目的:

报告一系列儿童患者的全球发育迟缓病例.
突出MECP2-关联雷特综合征 (RS) 的意外遗传诊断.
为了证明RS的临床表现的扩大.

主要方法:

追溯案例系列分析.
对四名女性儿科患者的临床数据的审查.
对MECP2突变的遗传测试结果的分析.

主要成果:

四名女性儿科患者被诊断出患有MECP2相关的雷特综合征 (RS).
在基因检测之前,没有一个患者符合RS的确定的临床诊断标准.
患者呈现全球发育迟缓,没有典型的发展或回归.

结论:

广泛的基因组测序对于全球发育迟缓的患者来说很重要.
雷特综合征的非典型和轻度呈现越来越被认可.
对RS临床谱的理解随着基因测试标准化而演变.

关键词:

遗传学遗传学遗传学是一个神经发育的神经发育发作发作这些

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