一个新型的NDUFV2变体在一个无症状的青少年女孩中,患有渐进性腔性白脑病变
Emine Caliskan1, Safiye Gunes Sager2, Akif Ayaz3
1Department of Pediatric Radiology, Kartal Dr. Lutfi Kirdar City Hospital, University of Health Sciences, Istanbul, Turkey.
Molecular syndromology
|December 5, 2024
概括
在NDUFV2基因的突变与渐进性化性白血脑病 (PCL) 有关. 在一个青少年中发现了一种新型的NDUFV2变体,仍然无症状,这表明PCL可能并不总是在婴儿期出现的.
科学领域:
- 神经遗传学 神经遗传学
- 线粒体生物学 线粒体生物学
- 神经病理学神经病理学
背景情况:
- 渐进性化性脑白内障 (PCL) 是一种罕见的神经系统疾病.
- 线粒体呼吸链基因中的致病变体与PCL有关.
- NDUFV2基因突变是与PCL相关的最近发现.
研究的目的:
- 报告与NDUFV2基因变异相关的新型PCL病例.
- 调查PCL的临床表现和遗传基础.
- 为了突出青春期无症状PCL的潜力.
主要方法:
- 一个12岁的女性偶尔发现PCL的案例介绍.
- 神经成像 (CT和MRI) 来评估白质异常.
- 整体外基因组测序以识别遗传变异.
主要成果:
- 在一个12岁的孩子身上偶然发现了暗示PCL的周周结膜白质变化.
- 在NDUFV2基因中鉴定了一种同卵性p.R222C误解变异.
- 患者在6年的随访期间保持无症状,MRI发现稳定.
结论:
- 加强了NDUFV2变种与PCL之间的关联.
- 证明PCL可以在青春期无症状呈现,挑战典型的婴儿发病.
- 这表明NDUFV2相关PCL的临床范围更广泛.
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