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

V De Laurenzi, G R Rogers, D J Hamrock, L N Marekov, P M Steinert, J G Compton, N Markova, W B Rizzo
Nature Genetics 1996, 12 (1): 52-7
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.

Full Text Links

Find Full Text Links for this Article


You are not logged in. Sign Up or Log In to join the discussion.

Trending Papers

Remove bar
Read by QxMD icon Read

Save your favorite articles in one place with a free QxMD account.


Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.