Sjögren–Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
Authors:
- Vincenzo De LaurenziVLVincenzo De Laurenzi
- Geraldine R. RogersGRGeraldine R. Rogers
- David J. HamrockDHDavid J. Hamrock
- Lyuben N. MarekovLMLyuben N. Marekov
- Peter M. SteinertPSPeter M. Steinert
- John G. ComptonJCJohn G. Compton
- Nelli MarkovaNMNelli Markova
- William B. RizzoWRWilliam B. Rizzo
- 1 January 1996
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 12 (1) , 52-57
Abstract
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 DNA 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.Keywords
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