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在HNRNPH2-与神经发育障碍相关的Rett-like表型中

Joseph Nicho Gonzalez¹, Sylvie Goldman^2,3, Melissa T Carter⁴

¹Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.

|June 28, 2023

概括

与HNRNPH2相关的神经发育障碍与雷特综合征具有许多临床特征,包括发育回归和步态异常. 这表明,在呈现类似雷特综合征的症状的患者的差异诊断中应考虑HNRNPH2-RNDD.

科学领域:

遗传学是一个遗传学.
神经科学是一个神经科学.
发展生物学发展生物学

背景情况:

雷特综合征 (RTT) 是一种神经发育障碍,每1万-1万5千名女性中就有1人患有这种疾病,其特征是发育回归,技能丧失以及特定的运动和言语异常.
虽然MECP2基因变异导致超过95%的经典RTT,但存在其他遗传原因,特别是非典型的RTT.
与HNRNPH2相关的神经发育障碍 (HNRNPH2 -RNDD) 是一种由HNRNPH2中的新发病性误解变体引起的X相关疾病,呈现出发育迟缓,智力障碍,,自闭症特征和运动问题.

研究的目的:

为了研究HNRNPH2-RNDD和雷特综合征表型之间的临床重叠.
根据护理人员的报告,评估HNRNPH2-RNDD患者是否符合非典型雷特综合征的诊断标准.

主要方法:

护理人员报告的电子调查被用来收集33名患有HNRNPH2-RNDD的个体临床特征的数据.
分析了调查数据,以确定符合雷特综合征主要和次要标准的表型.

主要成果:

26名护理人员完成了调查;只有3人先前有非典型的RTT诊断.
报告的大量表型符合主要RTT标准,包括发育技能回归和异常步行.
根据调查结果,有12名患有HNRNPH2-RNDD的人符合非典型雷特综合征的临床诊断标准.

结论:

患有HNRNPH2-RNDD的个体表现出与雷特综合征的显著临床重叠.
在呈现与雷特综合征相似的临床特征的患者的差异诊断中应包括HNRNPH2-RNDD.

关键词:

在 HNRNPH2 的情况下,HNRNPH2 与HNRNPH2相关的神经发育障碍 (HNRNPH2-RNDD)雷特综合征雷特综合征类似雷特的表型神经发育障碍是一种神经发育障碍.神经发育障碍 (NDD) 是一种神经发育障碍.

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