RARS1‐related hypomyelinating leukodystrophy‐9 (HLD‐9) in two distinct Iranian families: Case report and literature review
Sajjad Biglari,
Hassan Vahidnezhad,
Mohammad Amin Tabatabaiefar
et al.
Abstract:BackgroundHypomyelinating leukodystrophy‐9 (HLD‐9) is caused by biallelic pathogenic variants in RARS1, which codes for the cytoplasmic tRNA synthetase for arginine (ArgRS). This study aims to evaluate the clinical, neuroradiological, and genetic characteristics of patients with RARS1‐related disease and determine probable genotype–phenotype relationships.MethodsWe identified three patients with RARS1 homozygous pathogenic variants. Furthermore, we performed a comprehensive review of the literature.ResultsHomo… Show more
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