CCM1 gene mutations in families segregating cerebral cavernous malformations

Citation
Wj. Davenport et al., CCM1 gene mutations in families segregating cerebral cavernous malformations, NEUROLOGY, 56(4), 2001, pp. 540-543
Citations number
10
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
NEUROLOGY
ISSN journal
00283878 → ACNP
Volume
56
Issue
4
Year of publication
2001
Pages
540 - 543
Database
ISI
SICI code
0028-3878(20010227)56:4<540:CGMIFS>2.0.ZU;2-F
Abstract
Cerebral cavernous malformations (CCM) are vascular anomalies, sometimes in herited as an autosomal dominant trait, which can cause strokes and seizure s. Recently, mutations of the CCM1 gene (chromosome 7q) have been found in a subset of families. The authors found 10 new mutations by screening 29 fa milies and five seemingly sporadic cases of CCM1. The mutations predicted t runcation of the Krit1 mRNA encoded by CCM1, supporting the contention that CCM result from loss of Krit1 protein function and the possibility that th is protein acts as a tumor suppressor.