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

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

Research output: Contribution to journalArticlepeer-review

218 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)52-57
Number of pages6
JournalNature Genetics
Volume12
Issue number1
DOIs
StatePublished - Jan 1996
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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