FIRST PRENATAL-DIAGNOSIS BY MUTATION ANALYSIS IN A FAMILY WITH SJOGREN-LARSSON-SYNDROME

Sjogren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder characterized by congenital ichthyosis, mental retardation, and spast ic diplegia or tetraplegia. The disorder has the highest incidence in the north of Sweden and most of the cases are caused by a C943T mutati on in the FALDH gene. Prenatal diagnosis and PCR-based mutation analys is was performed in a pregnancy where the parents are heterozygous car riers for this mutation. The fetus was found to be homozygous for the mutation and thus affected by SLS. (C) 1997 by John Wiley & Sons, Ltd.