Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects

被引：36

作者：

de Wit, M. C. Y. ^{[2
]}

Kros, J. M. ^{[3
]}

Halley, D. J. J. ^{[1
]}

de Coo, I. F. M. ^{[2
]}

Verdijk, R. ^{[3
]}

Jacobs, B. C. ^{[2
]}

Mancini, G. M. S. ^{[1
]}

机构：

[1] Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands

[2] Erasmus MC, Dept Neurol, NL-3000 CA Rotterdam, Netherlands

[3] Erasmus MC, Dept Clin Pathol, NL-3000 CA Rotterdam, Netherlands

来源：

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2009年 / 80卷 / 04期

关键词：

EHLERS-DANLOS-SYNDROME; NODULAR HETEROTOPIA; MOSAIC MUTATIONS; A MUTATIONS; GENE CAUSE; FLNA; MIGRATION; BINDING;

D O I：

10.1136/jnnp.2008.149419

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Filamin A is an important gene involved in the development of the brain, heart, connective tissue and blood vessels. A case is presented illustrating the challenge in recognising patients with filamin A mutations. The patient, a 71-year-old woman, was known to have heart valve disease and bilateral periventricular nodular heterotopia when she died of a subarachnoid haemorrhage. Autopsy showed typical cerebral bilateral periventricular heterotopia and vascular abnormalities. Postmortally, the diagnosis of a filamin A mutation was confirmed. Recognition during life may prevent cardiovascular problems and provide possibilities for genetic counselling.

引用

页码：426 / 428

页数：3

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