一组伊朗脑白质营养不良患者的基因变异概述
Overview of genetic variants in a cohort of Iranian patients with leukodystrophy.
作者信息
Fathi Mohadeseh, Khalilian Sheyda, Miryounesi Mohammad, Ghafouri-Fard Soudeh
机构信息
Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
出版信息
Sci Rep. 2025 Jul 1;15(1):21898. doi: 10.1038/s41598-025-07597-z.
Leukodystrophies are a number of rare genetic disorders that influence the white matter of the brain. The current study aimed to identify the underlying genetic cause of leukodystrophy in 14 Iranian cases, mainly presented by hypomyelinating leukodystrophies. Whole exome sequencing was used for this purpose. Notably, a certain RARS1 variant (c.2T > C) was found in six cases. In addition, six cases carried homozygote variants in the GJC2, PLEKHG2, RNF220, POLR1C, DEGS1 and ACER3 genes, respectively. Finally, two patients carried a heterozygote variant in TMEM63A or TUBB4A, respectively. Taken together, the current study shows high prevalence of a certain RARS1 variant among Iranian patients with leukodystrophy. Moreover, a list of other genes was suggested as underlying causes of leukodystrophy in this population. Further studies are needed to elaborate the spectrum of genetic mutations in Iranian cases with leukodystrophy.
脑白质营养不良是一系列影响大脑白质的罕见遗传疾病。当前研究旨在确定14例伊朗患者脑白质营养不良的潜在遗传病因，这些患者主要表现为低髓鞘性脑白质营养不良。为此采用了全外显子组测序。值得注意的是，在6例患者中发现了某种RARS1变体（c.2T＞C）。此外，6例患者分别在GJC2、PLEKHG2、RNF220、POLR1C、DEGS1和ACER3基因中携带纯合子变体。最后，2例患者分别在TMEM63A或TUBB4A中携带杂合子变体。总体而言，当前研究表明某种RARS1变体在伊朗脑白质营养不良患者中具有较高的发生率。此外，还提出了一系列其他基因作为该人群脑白质营养不良的潜在病因。需要进一步研究以阐明伊朗脑白质营养不良病例中的基因突变谱。
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