A MISSENSE MUTATION IN THE FALDH GENE IDENTIFIED IN SJOGREN-LARSSON-SYNDROME PATIENTS ORIGINATING FROM THE NORTHERN PART OF SWEDEN

Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder char acterized by congenital ichthyosis, spastic di- or tetraplegia, and me ntal retardation. SLS has been reported to occur in many populations b ut the highest incidence is in the north of Sweden. The gene causing S LS encodes a fatty aldehyde dehydrogenase (FALDH). In the present stud y, a point mutation in exon 7 of the FALDH gene was found in SLS patie nts of northern Swedish origin. The mutation consists of a C-to-T exch ange at nucleotide position 943 in the cDNA. As a consequence, a highl y conserved proline is replaced by a serine. The mutation was found in 49 out of 58 affected chromosomes and could be the most widely spread SLS mutation in the world.