患有过氧体生物发生障碍的患者的正常非常长链脂肪酸水平:一个病例报告
Bita Barazandeh Shirvan1,2, Najmeh Ahangari3, Razie Rezaie2,4
1Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
BMC pediatrics
|November 28, 2024
概括
泽尔韦格谱系障碍 (ZSD) 可以呈现出正常的非常长链脂肪酸 (VLCFA) 水平,挑战传统查. 这一案例凸显了基因测试对于准确诊断过氧体生物发生障碍 (PBD) 的重要性.
科学领域:
- 遗传学 遗传学 是一个
- 生物化学 生物化学
- 神经学 神经学
背景情况:
- 泽尔韦格谱系障碍 (ZSD) 是一组由PEX基因变异引起的过氧体生物发生障碍 (PBD).
- 非常长链脂肪酸 (VLCFA) 是查过氧体疾病的主要生化标志物.
- 这项研究报告了ZSD谱中罕见的PBD病例,该病例表现出正常的血VLCFA水平.
研究的目的:
- 报告Zellweger频谱中罕见的PBD病例,血VLCFA水平正常.
- 为了强调整个外体序列测序 (WES) 的诊断实用性,当生物化学标记物没有确定性时.
- 根据临床和遗传发现重新分类PEX6变异.
主要方法:
- 一个10岁的女孩的神经发育迟缓,面部形,听力障碍被调查.
- 大脑MRI显示了轻微的沟扩张和围巴基基利亚.
- 整体外体序列测定在PEX6中发现了一个同卵性VUS (NM_000287.4:c.1992G>C,p.Glu664Asp),通过桑格序列测定得到证实.
主要成果:
- 血VLCFA水平出乎意料地正常,尽管临床怀疑ZSD.
- 整个外体序列测序对于确立诊断至关重要.
- 在患者和她的父母身上发现了一种同卵性PEX6变体 (c.1992G>C).
结论:
- 在Zellweger频谱障碍患者中,血VLCFA水平可能是正常的.
- 应该将PEX6 c.1992G>C变种从VUS重新分类为可能致病的.
- 临床特征,如面部形和听力障碍辅助器在变体重新分类.
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