Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene.
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.
Skin Biology Laboratory of National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892-2755, USA.
V
V
De Laurenzi
G R
GR
Rogers
D J
DJ
Hamrock
L N
LN
Marekov
P M
PM
Steinert
J G
JG
Compton
N
N
Markova
W B
WB
Rizzo
D000445:Aldehyde Oxidoreductases / Q000172:deficiency* / Q000235:genetics; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D003001:Cloning, Molecular; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D051381:Rats; D016415:Sequence Alignment; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid; D016111:Sjogren-Larsson Syndrome / Q000201:enzymology / Q000235:genetics*
D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase