Update on Sjögren-Larsson syndrome.
Sjögren-Larsson syndrome (SLS, MIM 270200) is a rare autosomal recessive neurocutaneous disorder due to a deficiency of the fatty aldehyde dehydrogenase and defined by a characteristic triad of symptoms including congenital ichthyosis, spastic di- or quadriplegia and mental retardation. Recently, genetic studies have subsequently shown linkage of the syndrome to chromosome 17p in Swedish pedigrees, confirmation of linkage to the same locus in non-Swedish pedigrees, and finally cloning of the gene as well as detection of mutations in affected probands. Furthermore, SLS may well be soon added to the list of peroxisomal disorders. The purpose of this paper is to provide an up-to-date synopsis of SLS and to outline specific aspects of this syndrome that are still unclear.
Lacour
M
M
Department of Dermatology, Great Ormond Street Hospital for Children, NHS Trust, London, UK.
D000444:Aldehyde Dehydrogenase / Q000172:deficiency; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D003001:Cloning, Molecular; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D007057:Ichthyosis / Q000473:pathology; D008607:Intellectual Disability; D009154:Mutation / Q000235:genetics; D010264:Paraplegia / Q000473:pathology; D010375:Pedigree; D018901:Peroxisomal Disorders / Q000145:classification; D011782:Quadriplegia / Q000473:pathology; D016111:Sjogren-Larsson Syndrome / Q000145:classification / Q000235:genetics / Q000473:pathology; D013548:Sweden
D000444:Aldehyde Dehydrogenase