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

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.