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儿童神经学:粘多糖症IIID:超结构和基因组研究的证据

Rashmi Santhoshkumar¹, Rohan R Mahale¹, Pakina Krishna Kishore¹

¹From the Departments of Neuropathology (R.S., Y.T.C.) and Neurology (R.R.M., P.K.K.), National Institute of Mental Health and Neurosciences, Bengaluru, India.

|July 24, 2023

概括

粘多糖症IIID是一种罕见的溶酶体储存障碍,由GNS基因变异引起. 这项研究在印度患者中发现了一种新的GNS变异和色素视网膜病变,扩大了已知的临床谱.

科学领域:

遗传学是一个遗传学.
生物化学生化学
罕见疾病罕见疾病

背景情况:

粘多糖症IIID (MPS IIID) 是一种罕见的自体逆性溶酶体储存障碍 (LSD).
它是由N-乙葡萄糖胺-6-硫酶 (GNS) 酶缺乏引起的,导致肝硫酸盐的积累.
膜状细胞质体 (MCB) 是特有的超结构特征.

研究的目的:

在印度患者中报告MPS IIID病例.
为了识别MPSIIID的新型遗传变异和临床表现.
描述一种罕见的LSD的临床和遗传发现.

主要方法:

用电子显微镜进行肌肉活检以确定MCBs.
基因分析用于检测GNS基因中的致病变体.
临床评估,包括眼科评估.

主要成果:

发现了一种新的致病性GNS变体 (c.1078 G>T,p.G360C).
患者呈现智力障碍,色素视网膜病变和行为异常.
在肌肉活检中观察到MCB,证实了诊断.

结论:

这种病例扩大了MPS IIID的临床谱,特别是包括色素视网膜病变.
遗传确认和超结构性发现对于诊断MPS IIID至关重要.
早期诊断和特征罕见LSDs对于患者管理至关重要.

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