ArticleGenetics and molecular biology
Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder.
Article in Genetics and molecular biology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 15 citations in OpenAlex.
- Spectrum of ARSA mutations in Iranian patients with metachromatic leukodystrophy.Biochemical genetics · 2026Article
- Juvenile metachromatic leukodystrophy caused by a rare genetic mutation.Neurogenetics · 2025Article
- Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.Genome biology · 2023Article
- A model of metformin mitochondrial metabolism in metachromatic leukodystrophy: first description of human Schwann cells transfected with CRISPR-Cas9.Open biology · 2022Article
- Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.Journal of molecular neuroscience : MN · 2022Article
- Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.Neurogenetics · 2020Article
- Phenotypic variation between siblings with Metachromatic Leukodystrophy.Orphanet journal of rare diseases · 2019Article
- Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.Journal of molecular neuroscience : MN · 2019Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the mutation type of the ARSA gene in three relative Iranian patients. We found a novel homozygous missense mutation c.1070 G > T (p.Gly357Val) in exon 6 of these patients. The mutation was found to be reported for the first time in MLD patients. The data can update the mutation profile and contribute toward improved clinical management and counseling of MLD patients.
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Registered trials
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