A NOVEL POINT MUTATION IN THE STEROID SULFATASE GENE IN X-LINKED ICHTHYOSIS

We analyzed the steroid sulfatase (STS) gene in nine Japanese patients with X-Linked ichthyosis (XLI) by a polymerase chain reaction techniq ue and subsequent DNA sequencing, Eight of nine patients showed comple te deletion of the STS gene, In a patient of XLI exhibiting a normal a mplifying pattern with predicted sizes of the STS gene, a novel mutati on was found resulting in the appearance of a stop codon in exon 7 of the STS gene, This suggests that exon 7 or an area in its downstream r egion is important for STS activity.