A novel homozygous missense mutation (Val 325-->Ala) in the protein C gene causing neonatal purpura fulminans.
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.
Witt
I
I
Biochemical Laboratory, Children's Hospital, University of Freiburg, Germany.
Beck
S
S
Seydewitz
H H
HH
Tasangil
C
C
Schenck
W
W
D001483:Base Sequence; D003241:Consanguinity; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005858:Germany; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency; D011693:Purpura / Q000151:congenital / Q000235:genetics*; D014421:Turkey / Q000208:ethnology
D011486:Protein C