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Article

Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.

Journal of child neurology - 1 Oct 2013

Davis Kathleen, Holden Kenton R, S'Aulis Dana, Amador Claudia, Matheus M Gisele, Rizzo William B

Abstract excerpt

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...

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Identifiers

PMID: 23034980
DOI: 10.1177/0883073812460581
PMCID: PMC6028016

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Source receipt: pubmed, retrieved 7 Sept 2026.

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