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发展,认知,眼动力和神经成像发现与SUFU发生不足有关:揭示微妙和高度可变的表型

Sandy Siegert¹, Anna Grisold², Katharina Pal-Handl³

¹Division of Pediatric Pulmonology, Allergology and Endocrinology, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.

Pediatric neurology

|August 24, 2024

概括

SUFU基因的突发性不足会导致轻微的发育延迟和可识别的神经成像发现,甚至在家庭内也有显著的变异性. 这些与SUFU相关的特征通常是温和的,并且随着时间的推移得到了良好的补偿.

科学领域:

遗传学是一个遗传学.
神经发育障碍神经发育障碍
罕见疾病罕见疾病

背景情况:

双性SUFU变体与朱伯特综合征有关.
异卵性SUFU变体与发育延迟和眼动力失灵有关.
需要进一步划分SUFU哈普洛缺陷的轻度表型谱.

研究的目的:

为了进一步划分SUFU的轻度表型谱的哈普洛缺陷.
为了调查患有截断性SUFU变异的个体.

主要方法:

对来自三个家族的9个人进行了全面评估,这些人患有截断性SUFU变异.
包括神经成像,神经心理学,视频眼镜和遗传检测.

主要成果:

确定了三种SUFU的截断变种 (c.895C>T p.(Arg299*),c.71dup p.(Ala25Glyfs*23),c.71del p.(Pro24Argfs*72)).
观察到高的表型变异性,包括运动发育迟缓,轴性低垂,眼睛运动失调,小脑征兆和大脑.
在9名患者中的7名中检测到与SUFU相关的特征性神经成像异常.

结论:

SUFU单元缺陷呈现出轻微但可识别的特征和明显的表型变异性.
与朱伯特综合征相比,神经发育和行为异常是轻微的.
随着时间的推移,症状似乎得到了很好的补偿.

关键词:

认知认知是一种认知.发育迟缓发展迟缓朱伯特综合征是什么?朱伯特综合征是什么?眼部运动不适应症眼部运动不适应症苏福是什么意思苏福是什么意思

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