A novel mutation c.1048A>T at codon 350(Lys>Stop) in PROC gene causing neonatal purpura fulminans

Purpura fulminans in the neonatal period due to severe congenital protein C deficiency (protein C activity T transversion in a homozygous state at codon 350 (Lys>Stop) of protein C (PROC) gene. Prenatal diagnosis in subsequent pregnancy was done which revealed the affected fetus had the same muta...

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Veröffentlicht in:	Blood coagulation & fibrinolysis 2013-12, Vol.24 (8), p.890-892
Hauptverfasser:	Jain, Rakhi, T, Leenath, Chandran, Jolly, Jayandharan, Giridhara R, Palle, Arpana, Moses, Prabhakar D
Format:	Artikel
Sprache:	eng
Schlagworte:	Consanguinity Disseminated Intravascular Coagulation - complications Disseminated Intravascular Coagulation - genetics Disseminated Intravascular Coagulation - pathology Fatal Outcome Female Homozygote Humans Infant, Newborn Point Mutation Pregnancy Protein C - genetics Purpura Fulminans - complications Purpura Fulminans - genetics Purpura Fulminans - pathology
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Beschreibung
Zusammenfassung:	Purpura fulminans in the neonatal period due to severe congenital protein C deficiency (protein C activity T transversion in a homozygous state at codon 350 (Lys>Stop) of protein C (PROC) gene. Prenatal diagnosis in subsequent pregnancy was done which revealed the affected fetus had the same mutation in homozygous form.
ISSN:	0957-5235 1473-5733
DOI:	10.1097/MBC.0b013e3283651398