ArticleMolecular biology reports2012
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.
Article in Molecular biology reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Prevalence and carrier frequency of Canavan disease in a South Indian community with implications for research and public health.Scientific reports · 2026Article
- A Mild Juvenile Onset Canavan Disease With Atypical Clinical Presentation and MRI Brain Features.JIMD reports · 2025Article
- UrineHuman gene therapy · 2024Article
- Combined transcriptome and proteome analyses reveal differences in the longissimus dorsi muscle between Kazakh cattle and Xinjiang brown cattle.Animal bioscience · 2021Article
- A Novel Mutation in Aspartoacylase Gene; Canavan Disease.Iranian journal of child neurology · 2015Article
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Authors and funding
8 authors at 4 institutions in 1 country.
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Abstract
Canavan disease (OMIM 271900) is an autosomal recessive lethal neurodegenerative disorder characterized by spongy degeneration of the brain. A highly consanguineous Pakistani family with Canavan disease was enrolled on the basis of diagnosis. All the affected individuals have mental retardation, megalocephaly and degradation of motor skills, poor head control, partial vision loss, weakness of the muscles and raised urinary concentration of N-acetyl aspartic acid in the urine. Blood samples were collected from affected as well as normal siblings and processed for DNA purification. Linkage analysis was performed by typing three short tandem repeat markers D17S1583 (7.19 cM), D17S1828 (10.02 cM) and D17S919 (14.69 cM) for an already-reported gene/locus ASPA at chromosome 17p13.2 causing Canavan disease. During linkage analysis, all the affected individuals were homozygous for short tandem repeat markers while the normal siblings were heterozygous showing co-segregation of the disease. Gene ASPA (NM_000049) was undertaken to sequence for mutation analysis. As a result of sequence analysis, we found missense substitution 740A→G (p.G274R) in exon 6 of gene ASPA. To our knowledge, this is the first report about Canavan disease on a Pakistani family.
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