Further evidence of genetic homogeneity in Sjögren-Larsson syndrome

Acta Derm Venereol. 1999 Jan;79(1):41-3. doi: 10.1080/000155599750011688.

Abstract

Sjögren-Larsson syndrome is an autosomal recessive disorder characterized by congenital ichthyosis, spastic di- or tetraplegia and mental retardation. In 1994 Sjögren-Larsson syndrome was mapped to chromosome 17, close to the genetic marker D17S805 in a study of 24 Swedish families. We have analysed 12 microsatellite markers in 10 additional non-Swedish families with Sjögren-Larsson syndrome originating from Germany, Lebanon, Spain and Canada. The results are consistent with earlier data and give further evidence of Sjogren-Larsson syndrome being a homogeneous disorder. Swedish soldiers were bivouacking in Germany during the 30-year war in the 17th century and it has been suggested that they could have introduced the Sjögren-Larsson syndrome gene to the German population. Haplotypes from 7 German families with Sjögren-Larsson syndrome were compared with earlier analysed Swedish haplotypes. No evidence of all German patients carrying the same mutation or the major "Swedish Sjögren-Larsson syndrome gene" was found.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / analysis
  • DNA / genetics
  • Family Health
  • Female
  • Genetic Heterogeneity
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Male
  • Microsatellite Repeats
  • Sjogren-Larsson Syndrome / genetics*
  • Sweden / ethnology

Substances

  • DNA