Nature Genetics
12, 52 - 57 (1996)
doi:10.1038/ng0196-52
Sjögren−Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase geneVincenzo De Laurenzi1, 2, Geraldine R. Rogers1, David J. Hamrock1, Lyuben N. Marekov1, Peter M. Steinert1, John G. Compton1, Nelli Markova1
& William B. Rizzo1, 3, 4
1Skin Biology Laboratory of National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892-2755, USA.
2Istituto Dermopatico Dell' Immacolata (IDI-IRCCS), Biochemistry Laboratory at Department of Experimental Medicine, University Tor Vergata, Rome 00167, Italy.
3Departments of Pediatrics and Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond, Virginia 23298-0259, USA.
4Correspondence should be addressed to W.B.R. Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder characterized by mental retardation, spasticity and ichthyosis. SLS patients have a profound deficiency in fatty aldehyde dehydrogenase (FALDH) activity. We have now cloned the human FALDH cDNA and show that it maps to the SLS locus on chromosome 17p11.2. Sequence analysis of FALDH amplified from fibroblast mRNA and genomic DMA from 3 unrelated SLS patients reveals distinct mutations, including deletions, an insertion and a point mutation. The cloning of FALDH and the identification of mutations in SLS patients opens up possibilities for developing therapeutic approaches to ameliorate the neurologic and cutaneous symptoms of the disease
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