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识别第四个患有性麻的患者 90,扩大表型谱

Tarik Duzenli¹, Vusala Yusufova², Huriye Cetin³

¹Faculty of Medicine, Department of Medical Genetics, Gazi University, Ankara, Türkiye.

Clinical genetics

|June 18, 2025

概括

性90是一种罕见的神经疾病,与SPTSSA基因变异有关. 本案例研究突出了新的生殖尿路症状,扩大了对这种罕见疾病的理解.

科学领域:

神经学神经学
遗传学遗传学是一个
罕见疾病罕见疾病

背景情况:

性四肢90 (SPG90) 是一种罕见的神经疾病,与胺棕基转移酶小亚单元A (SPTSSA) 基因的变异有关.
这种情况通常表现为神经发育延迟,听力损失,运动障碍和性.
在此之前,只有三个案例被记录在案.

研究的目的:

报告一个新的Spastic残病例90在一个10岁的女性.
为了确定该综合征的潜在新临床表现.
调查与SPG90.0.相关的复发性致病变体.

主要方法:

对患有全球发育迟缓和运动障碍的儿科患者进行临床评估.
整体外基因组测序以识别遗传变异.
文献审查,将发现与之前报告的病例进行比较.

主要成果:

患者呈现全球发育迟缓,无法行走,低血压,性,性,偏远管酸性,反复发作的尿路感染,质,神经性膀和初级多发性腹.
外体序列检测发现了一种异胞性致病性SPTSSA变体 (p.Thr51Ile),此前已在另外两名患者中报告.
这些发现表明,尿生殖系统问题可能是SPG90.0的新组成部分.

结论:

在SPTSSA中,p.Thr51Ile变异似乎在Spastic paraplegia 90.0中复发.
神经性膀和初级多滴水症代表了SPG90.90的新临床特征.
生殖尿路异常应考虑在Spastic paraplegia90的临床谱中.

关键词:

这是SPTSSASA.神经性膀的神经性膀主要的多滴滴症是什么?性残残疾 90 90 年.脂体是指脂体的组成部分.

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