title: A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden.
abstract: Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by congenital ichthyosis, spastic di- or tetraplegia, and mental retardation. SLS has been reported to occur in many populations but the highest incidence is in the north of Sweden. The gene causing SLS encodes a fatty aldehyde dehydrogenase (FALDH). In the present study, a point mutation in exon 7 of the FALDH gene was found in SLS patients of northern Swedish origin. The mutation consists of a C-to-T exchange at nucleotide position 943 in the cDNA. As a consequence, a highly 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.
authors.affiliation: Department of Clinical Genetics, University Hospital, Uppsala, Sweden. Anna.Sillen@klingen.uu.se
authors.forename: A
authors.initials: A
authors.lastname: Sillén
authors.forename: S
authors.initials: S
authors.lastname: Jagell
authors.forename: C
authors.initials: C
authors.lastname: Wadelius
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000235:genetics*; D002170:Canada / Q000208:ethnology; D005060:Europe / Q000208:ethnology; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008877:Middle East / Q000208:ethnology; D010375:Pedigree; D017354:Point Mutation; D016111:Sjogren-Larsson Syndrome / Q000453:epidemiology / Q000235:genetics*; D013548:Sweden / Q000453:epidemiology / Q000208:ethnology
chemical_list: D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase