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 [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.
Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.
D S
DS
Millar
J
J
Allgrove
C
C
Rodeck
V V
VV
Kakkar
D N
DN
Cooper
D001483:Base Sequence; D015193:Chorionic Villi Sampling; D003241:Consanguinity; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011486:Protein C / Q000235:genetics; D020151:Protein C Deficiency; D011693:Purpura / Q000151:congenital / Q000235:genetics*; D017384:Sequence Deletion
D011486:Protein C