A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy

Blood Coagul Fibrinolysis. 1994 Aug;5(4):647-9.


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 [3351del4, 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.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Chorionic Villi Sampling
  • Consanguinity
  • Female
  • Fetal Diseases / diagnosis*
  • Genotype
  • Humans
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Mutagenesis, Insertional
  • Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Protein C / genetics
  • Protein C Deficiency*
  • Purpura / congenital
  • Purpura / genetics*
  • Sequence Deletion


  • Protein C