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一个患有神经元内核包容性疾病的家族,有焦点细分球粒硬化症

Kazuki Watanabe^1,2, Tomoyasu Bunai¹, Masamune Sakamoto^3,4

¹Department of Neurology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-Ku, Hamamatsu, 431-3192, Japan.

Journal of neurology

|July 30, 2024

概括

由NOTCH2NLC重复扩张引起的神经内核包容性疾病 (NIID) 可以表现为脏疾病,包括焦点细分质硬化症 (FSGS). 这项研究确定NOTCH2NLC STR扩张是NIID患者病的潜在原因.

科学领域:

遗传学是一个遗传学.
神经学神经学
腎臟病學 (nephrology) 是一種醫學專業.

背景情况:

神经内核包容性疾病 (NIID) 是一种罕见的神经退行性疾病,与NOTCH2NLC GGC重复扩张有关.
虽然NIID的全身效应已被认可,但其对功能的影响,特别是作为最初的表现,还不清楚.
这项研究调查了一家患有NIID的家庭,其中四名成员的蛋白尿是主要症状,其中三名被诊断患有焦点细分质硬化症 (FSGS).

研究的目的:

为了调查NIID的遗传基础,在一个家庭呈现病.
探索NOTCH2NLC重复扩张和NIID中脏表现之间的关联.
描述NIID的临床和遗传谱,重点关注脏参与.

主要方法:

外基因组测序 (ES) 和纳米孔长读全基因组测序 (LR-WGS) 用于对索引病例的遗传分析.
纳米孔标测序与Cas9-介导的PCR无缩被用于确认NOTCH2NLC中的短串联重复 (STR) 扩张.
使用纳米孔数据进行了甲基化分析,以评估与扩展的等位基相关的表观遗传修饰.

主要成果:

外基组测序没有确定致病变体,但LR-WGS揭示了NOTCH2NLC.中的STR扩张.
纳米孔向测序证实了NOTCH2NLC STR扩张在受影响和无症状的家庭成员中.
甲基化分析显示,扩大NOTCH2NLC等位基因的多种多样化和低甲基化模式与疾病呈现相关.

结论:

这项研究扩大了已知的NIID临床谱,包括脏疾病.
在NOTCH2NLC中,短串重复扩张被确定为脏参与的原因,包括FSGS.
这些发现强调了在患有不明原因病和神经症状的患者中对NOTCH2NLC进行基因检测的重要性.

关键词:

焦点细分型淋巴结核硬化过甲基化过度的过程.纳米孔长读序列测序神经元内核包容性疾病是神经元内核包容性疾病.泰拉姆斯泰拉姆斯泰拉姆斯

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