Journal
JOURNAL OF CLINICAL NEUROSCIENCE
Volume 18, Issue 1, Pages 61-65Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.jocn.2010.04.051
Keywords
Brain; Cavernous malformation; CCM1; Chinese; Family; Gene mutation
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Funding
- Shanghai Rising-Star Program
- Shanghai Educational Development Foundation
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Familial cerebral cavernous malformations (CCMs) are characterized by an autosomal dominant transmission with incomplete penetrance. We have previously reported a 1292delAT mutation in the CCM1 gene in a Chinese family with CCM. Here we report a novel deletion of CCM1 that correlates strongly with CCM formation in another family. Ten affected family members were observed among the 25 participants, and multiple CCM lesions were detected in seven individuals. Nucleotide sequencing analysis in the index patient and other affected members showed a CAAA deletion in exon 12 at nucleotide (NT) 1197. We predict this deletion produces a premature stop code (TGA) at NT 1228, resulting in a truncated protein of 409 amino acids. (C) 2010 Elsevier Ltd. All rights reserved.
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