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A novel mutation c.1048A>T at codon 350(Lys>Stop) in PROC gene causing neonatal purpura fulminans.
Jain, Rakhi; T, Leenath; Chandran, Jolly; Jayandharan, Giridhara R; Palle, Arpana; Moses, Prabhakar D.
Afiliación
  • Jain R; aDepartment of Pediatrics bDepartment of Hematology cDepartment of Clinical Pathology Christian Medical College, Vellore, Tamilnadu, India.
Blood Coagul Fibrinolysis ; 24(8): 890-2, 2013 Dec.
Article en En | MEDLINE | ID: mdl-24158118
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.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteína C / Coagulación Intravascular Diseminada / Púrpura Fulminante Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn / Pregnancy Idioma: En Revista: Blood Coagul Fibrinolysis Asunto de la revista: ANGIOLOGIA / HEMATOLOGIA Año: 2013 Tipo del documento: Article País de afiliación: India Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteína C / Coagulación Intravascular Diseminada / Púrpura Fulminante Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn / Pregnancy Idioma: En Revista: Blood Coagul Fibrinolysis Asunto de la revista: ANGIOLOGIA / HEMATOLOGIA Año: 2013 Tipo del documento: Article País de afiliación: India Pais de publicación: Reino Unido