ArticleJournal of child neurology2013
Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.
Article in Journal of child neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 18 citations in OpenAlex.
- Genotypic and Phenotypic Characteristics of Turkish Patients with Sjögren-Larsson Syndrome.Molecular syndromology · 2026Article
- A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome.Journal of child neurology · 2021Article
- Sjögren-Larsson syndrome: Anesthetic considerations and practical recommendations.Paediatric anaesthesia · 2020Article
- Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum.JIMD reports · 2020Article
- Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.Molecular genetics & genomic medicine · 2019Article
- Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.Journal of human genetics · 2019Article
- Genotype and phenotype variability in Sjögren-Larsson syndrome.Human mutation · 2019Article
- Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report.BMC medical genetics · 2018Article
- Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome.Expert opinion on orphan drugs · 2016Article
- A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.Nature communications · 2014Article
- A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.Annals of Indian Academy of Neurology · 2013Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/quadriplegia. The authors describe 2 unrelated Honduran patients who carried the same novel homozygous nonsense mutation (c.1309A>T, p.K437X) and ALDH3A2 DNA haplotype, but widely differed in disease severity. One patient exhibited spastic quadriplegia with unusual neuroregression, whereas the other patient had the usual static form of spastic diplegia with neurodevelopmental disabilities. Biochemical analyses showed a similar profound deficiency of fatty aldehyde dehydrogenase activity and impaired fatty alcohol metabolism in both patients' cultured fibroblasts. These results indicate that variation in the neurologic phenotype of Sjögren-Larsson syndrome is not strictly determined by the ALDH3A2 mutation or the biochemical defect as expressed in cultured fibroblasts, but by unidentified epigenetic/environmental factors, gene modifiers, or other mechanisms.
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