A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden

Hum Genet. 1997 Aug;100(2):201-3. doi: 10.1007/s004390050490.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aldehyde Oxidoreductases / genetics*
  • Canada / ethnology
  • Europe / ethnology
  • Female
  • Genotype
  • Haplotypes
  • Humans
  • Male
  • Middle East / ethnology
  • Pedigree
  • Point Mutation*
  • Sjogren-Larsson Syndrome / epidemiology
  • Sjogren-Larsson Syndrome / genetics*
  • Sweden / epidemiology
  • Sweden / ethnology

Substances

  • Aldehyde Oxidoreductases
  • long-chain-aldehyde dehydrogenase