Portal de Periódicos da CAPES

The factor V G1691A mutation is a risk for porencephaly: A case–control study

2004; Wiley; Volume: 56; Issue: 2 Linguagem: Inglês

10.1002/ana.20184

1531-8249

Otfried Debus, Andrea Kosch, Ronald Sträter, Rainer Rossi, Ulrike Nowak‐Göttl,

Cardiovascular Issues in Pregnancy

Abstract This study was initiated to investigate prothrombotic risk factors in children with porencephaly. 76 porencephalic and 76 healthy infants were investigated for factor V (FV) G1691A mutation, factor II G20210A variant, methylenetetrahydrofolate reductase (MTHFR) C677T genotype, lipoprotein (a), protein C, protein S, and antithrombin. Only the FV mutation ( p = 0.005) and combinations of two or three different risk factors ( p = 0.003) were significantly associated with porencephaly. These data give evidence that the FV G1691A mutation and a combination of prothromboic factors play a major role in the development of childhood porencephaly. Ann Neurol 2004.