Overview of genetic variants in a cohort of Iranian patients with leukodystrophy
Open Access
- 1 July 2025
- journal article
- research article
- Published by Springer Nature in Scientific Reports
- Vol. 15 (1) , 1-6
Abstract
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.Keywords
This publication has 36 references indexed in Scilit:
- Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H‐ABC)American Journal of Medical Genetics Part A, 2014
- A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and CerebellumThe American Journal of Human Genetics, 2013
- Aminoacyl‐tRNA synthetases in medicine and diseaseEMBO Molecular Medicine, 2013
- Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2Current Protocols in Human Genetics, 2013
- SIFT web server: predicting effects of amino acid substitutions on proteinsNucleic Acids Research, 2012
- Magnetic resonance imaging pattern recognition in hypomyelinating disordersBrain, 2010
- RNF220, an E3 ubiquitin ligase that targets Sin3B for ubiquitinationBiochemical and Biophysical Research Communications, 2010
- Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutationsBrain, 2008
- Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like DiseaseThe American Journal of Human Genetics, 2004
- Cloning and Characterization of a Novel Human Alkaline CeramidaseJournal of Biological Chemistry, 2001