ArticleIranian journal of child neurology2014
Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich's Ataxia.
Article in Iranian journal of child neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Frataxin: from the sequence to the biological role.Biophysical reviews · 2025Review
- Mitochondrial iron metabolism and neurodegenerative diseases.Neurotoxicology · 2022Review
- Molecular Defects in Friedreich's Ataxia: Convergence of Oxidative Stress and Cytoskeletal Abnormalities.Frontiers in molecular biosciences · 2020Review
- Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience.Cerebellum (London, England) · 2019Article
- Mutation Analysis of the Mitochondrial tRNA Genes in Iranian Coronary Atherosclerosis Patients.Iranian journal of public health · 2017Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveFriedreich's ataxia is the most common form of hereditary ataxia with autosomal recessive pattern. More than 96% of patients are homozygous for GAA repeat extension on both alleles in the first intron of FXN gene and the remaining patients have been shown to be heterozygous for a GAA extension in one allele and point mutation in other allele. MATERIALS &
methodsIn this study, exons of 1, 2, 3, and 5 of frataxin gene were searched by single strand conformation polymorphism polymerase chain reaction (PCR-SSCP) in 5 patients with GAA extension in one allele. For detection of exact mutation, samples with band shifts were sent for DNA sequencing.
resultsThree novel point mutations were found in patients heterozygous for the GAA repeat expansion, p.S81A, p.Y123D, and p.S192C.
conclusionOur results showed that these point mutations in one allele with GAA extension in another allele are associated with FRDA signs. Thus, these results emphasize the importance of performing molecular genetic analysis for point mutations in FRDA patients.
Indexed as
Identifiers
24665325PMC3943053W2114881608What OpenQuestion holds
Registered trials
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