A novel homozygous missense mutation (Val 325-->Ala) in the protein C gene causing neonatal purpura fulminans.

Biochemical Laboratory, Children's Hospital, University of Freiburg, Germany.

A novel homozygous GTG-->GCG (Val 325-->Ala) substitution was detected in the protein C gene of a newborn causing severe purpura fulminans post partum. In the consanguineous parents and two further infants a heterozygous type 1 protein C deficiency was found. Up to now the heterozygous individuals are clinically unaffected. The mutation co-segregates with the protein C deficiency state. It creates a restriction enzyme (Sac II) cleavage site.

PMID: 7841324 [PubMed - indexed for MEDLINE]