Scholarlink

<p>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 <i>RARS1</i> variant (c.2T &gt; C) was found in six cases. In addition, six cases carried homozygote variants in the <i>GJC2</i>, <i>PLEKHG2</i>, <i>RNF220</i>, <i>POLR1C</i>, <i>DEGS1</i> and <i>ACER3</i> genes, respectively. Finally, two patients carried a heterozygote variant in <i>TMEM63A</i> or <i>TUBB4A</i>, respectively. Taken together, the current study shows high prevalence of a certain <i>RARS1</i> 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.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Overview of genetic variants in a cohort of Iranian patients with leukodystrophy

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年7月1日

查看全文
  • Mohadeseh Fathi,
  • Sheyda Khalilian,
  • Mohammad Miryounesi,
  • Soudeh Ghafouri-Fard

摘要

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.