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Genetics of Sjogren-Larsson Syndrome


In 1957, Sjögren and Larsson described a cohort of Swedish patients with an unusual combination of symptoms that included of congenital ichthyosis, intellectual disability, and spastic diplegia or tetraplegia.
Family studies indicated that Sjögren-Larsson syndrome (SLS) was a genetic disorder with autosomal recessive inheritance. Similar patients of all ethnic origins were subsequently recognized throughout the world.

Two decades later, Sjögren-Larsson syndrome was shown to be an inborn error of lipid metabolism caused by deficient activity of fatty alcohol:NAD oxidoreductase.
Subsequent studies identified a defect in fatty aldehyde dehydrogenase (FALDH), a component of the fatty alcohol:NAD oxidoreductase enzyme complex.
The FALDH gene (renamed ALDH3A2) was cloned in 1996, and patients with Sjögren-Larsson syndrome were found to have mutations in this gene.
Enzymatic and genetic testing provide a reliable means for diagnosing Sjögren-Larsson syndrome and determining carrier status.
Sjögren-Larsson syndrome is now the most widely recognized form of neuroichthyosis

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