title: A novel mutation c.1048A>T at codon 350(Lys>Stop) in PROC gene causing neonatal purpura fulminans.
abstract: Purpura fulminans in the neonatal period due to severe congenital protein C deficiency (protein C activity <1 IU/dl) is a rare autosomal recessive disorder. If untreated, it is fatal. Early identification of such patients may be lifesaving. Acquired deficiency of protein C caused by increased consumption as overt disseminated intravascular coagulation (DIC) and severe infection creates a diagnostic dilemma. Mutation analysis plays a critical role in confirming the diagnosis of the disease and offering prenatal diagnosis. In this report, we describe a newborn who presented with purpura fulminans and DIC, molecular analysis showed a novel c.1048A>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.
authors.affiliation: aDepartment of Pediatrics bDepartment of Hematology cDepartment of Clinical Pathology Christian Medical College, Vellore, Tamilnadu, India.
authors.forename: Rakhi
authors.initials: R
authors.lastname: Jain
authors.forename: Leenath
authors.initials: L
authors.lastname: T
authors.forename: Jolly
authors.initials: J
authors.lastname: Chandran
authors.forename: Giridhara R
authors.initials: GR
authors.lastname: Jayandharan
authors.forename: Arpana
authors.initials: A
authors.lastname: Palle
authors.forename: Prabhakar D
authors.initials: PD
authors.lastname: Moses
mesh_terms: D003241:Consanguinity; D004211:Disseminated Intravascular Coagulation / Q000150:complications / Q000235:genetics / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D017354:Point Mutation; D011247:Pregnancy; D011486:Protein C / Q000235:genetics*; D055665:Purpura Fulminans / Q000150:complications / Q000235:genetics / Q000473:pathology*
chemical_list: D011486:Protein C