COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.

ABSTRACT:

Objective

Mutations in the type IV collagen alpha 1 gene (COL4A1) cause dominantly inherited cerebrovascular disease. We seek to determine the extent to which COL4A1 mutations contribute to sporadic, nonfamilial, intracerebral hemorrhages (ICHs).

Methods

We sequenced COL4A1 in 96 patients with sporadic ICH. The presence of putative mutations was tested in 145 ICH-free controls. The effects of rare coding variants on COL4A1 biosynthesis were compared to previously validated mutations that cause porencephaly, small vessel disease, and hereditary angiopathy, nephropathy, aneurysms, and cramps (HANAC) syndrome.

Results

We identified 2 rare nonsynonymous variants in ICH patients that were not detected in controls, 2 rare nonsynonymous variants in controls that were not det

SUBMITTER: Weng YC 

PROVIDER: S-EPMC3335762 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature