Sjögren-Larsson syndrome (SLS)

• ALDH3A2 (aka FALD, Fatty aldehyde dehydrogenase)

Sjögren Larsson Syndrome is an autosomal recessive congenital ichthyosis with pruritus and abnormal lipid metabolism. Other characteristic features are delayed motor development due to spastic diplegia or tetraplegia, mental retardation, speech delay, short stature, and seizures. "Glistening white dots" on the retina and pigmentary retinal degeneration are found in about one-third of patients. Sjogren-Larsson syndrome is due mutations in the gene ALDH3A2 coding for the enzyme fatty aldehyde dehydrogenase. Mutations in the ALDH3A2 gene are identified by complete sequence analysis of the entire coding region and flanking splice sites of the gene. Analysis is performed from a peripheral blood sample in EDTA or buccal (cheek) swabs. Mutation-specific testing of relatives (carrier testing) and prenatal diagnosis in at-risk pregnancies is available once the underlying mutation(s) in a family have been identified.

Info sheet for molecular diagnosis
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options

ALDH, ALDH10, FALDH, SLS, oligophrenia, fatty aldehyde dehydrogenase, glistening white dots, ichthyosis, ALDH3A2

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