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Sjögren–Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

Nature Genetics volume 12, pages 52–57 (1996)Cite this article

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 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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Authors and Affiliations

  1. Skin Biology Laboratory of National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, 20892-2755, USA

    Vincenzo De Laurenzi, Geraldine R. Rogers, David J. Hamrock, Lyuben N. Marekov, Peter M. Steinert, John G. Compton, Nelli Markova & William B. Rizzo

  2. Istituto Dermopatico Dell' Immacolata (IDI-IRCCS), Biochemistry Laboratory at Department of Experimental Medicine, University Tor Vergata, Rome, 00167, Italy

    Vincenzo De Laurenzi

  3. Departments of Pediatrics and Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond, Virginia, 23298-0259, USA

    William B. Rizzo

Authors
  1. Vincenzo De Laurenzi
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  2. Geraldine R. Rogers
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  3. David J. Hamrock
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  4. Lyuben N. Marekov
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  5. Peter M. Steinert
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  6. John G. Compton
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  7. Nelli Markova
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  8. William B. Rizzo
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Laurenzi, V., Rogers, G., Hamrock, D. et al. Sjögren–Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet 12, 52–57 (1996). https://doi.org/10.1038/ng0196-52

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