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

被引：19

作者：

Debus, OM

Kosch, A

Sträter, R

Rossi, R

Nowak-Göttl, U

机构：

[1] Univ Klinikum Munster, Kinderklin Neuropadiatrie, Dept Neuropediat, D-48129 Munster, Germany

[2] Univ Munster, Childrens Hosp, Dept Hematol & Oncol, D-4400 Munster, Germany

[3] Childrens Hosp Neukolln, Berlin, Germany

来源：

ANNALS OF NEUROLOGY | 2004年 / 56卷 / 02期

关键词：

D O I：

10.1002/ana.20184

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 11 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.

引用

页码：287 / 290

页数：4

共 22 条

[1]

Bonnemann CG, 1996, AM J MED GENET, V63, P428

[2]

Brenner BR, 2002, ARCH PATHOL LAB MED, V126, P1296

[3] Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly [J].