A HOMOZYGOUS DELETION/INSERTION MUTATION IN THE PROTEIN-C (PROC) GENE CAUSING NEONATAL PURPURA FULMINANS - PRENATAL-DIAGNOSIS IN AN AT-RISK PREGNANCY

A novel homozygous mutation in the protein C (PROC) gene was detected in an individual with severe type I protein C deficiency who presented with neonatal Purpura fulminans. The deletion/insertion mutation found [351del4, 3350insA] resulted in an Asn102 --> Lys substitution and the removal of codon Gly103. First trimester prenatal diagnosis was performed in a subsequent pregnancy by chorionic villus sampling and PCR/direct sequencing; the foetus was shown to be heterozygous for the lesion. This diagnosis was confirmed phenotypically after the birth of a clinically healthy child.