The factor V G1691A mutation is a risk for porencephaly: A case-control study.
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.
Debus
Otfried M
OM
University Children's Hospital Münster, Department of Neuropediatrics, Germany. debuso@uni-muenster.de
Kosch
Andrea
A
Sträter
Ronald
R
Rossi
Rainer
R
Nowak-Göttl
Ulrike
U
D000409:Alanine / Q000235:genetics; D001927:Brain Diseases / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002648:Child; D005165:Factor V / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005998:Glycine / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D015999:Multivariate Analysis; D009154:Mutation; D011516:Prothrombin / Q000235:genetics; D012189:Retrospective Studies; D012306:Risk; D012307:Risk Factors
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D000409:Alanine; D005998:Glycine