Further evidence of genetic homogeneity in Sjogren-Larsson syndrome.

摘要

Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by congenital ichthyosis, spastic di- or tetraplegia and mental retardation. In 1994 Sjogren-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 Sjogren-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 Sjogren-Larsson syndrome gene to the German population. Haplotypes from 7 German families with Sjogren-Larsson syndrome were compared with earlier analysed Swedish haplotypes. No evidence of all German patients carrying the same mutation or the major "Swedish Sjogren-Larsson syndrome gene" was found.