PRENATAL-DIAGNOSIS OF LAMELLAR ICHTHYOSIS BY DIRECT MUTATIONAL ANALYSIS OF THE KERATINOCYTE TRANSGLUTAMINASE GENE

Autosomal recessive lamellar ichthyosis (LI) is a rare inherited disea se of cornification of the skin. Recently, the gene responsible for ty pe I LI has been identified and mutations have been described. The ide ntification of mutations in families at risk for LI allows a precise a nd rapid prenatal diagnosis. A family with a previously unreported mut ation is described and a prenatal diagnosis based on a simple polymera se chain reaction (PCR) approach is outlined. The molecular diagnosis was confirmed on post-mortem examination of the skin. (C) 1997 John Wi ley & Sons, Ltd.