ArticleAnnals of Indian Academy of Neurology2013
A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.
Article in Annals of Indian Academy of Neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 8 citations in OpenAlex.
- Article
- Genotype and phenotype variability in Sjögren-Larsson syndrome.Human mutation · 2019Article
- A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.Nature communications · 2014Article
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4 authors at 3 institutions in 3 countries.
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Abstract
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T > A (p.Y279N) mutation in exon 6 in two patients.
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