P Reich1, J Winkler, A Straube, H J Steiger, A Peraud. 1. Neurooncological Laboratory of the Department of Neurosurgery, Klinikum Grosshadern Ludwig-Maximilians University, Munich, Germany. astraube@nro.med.uni-muenchen.de
Abstract
OBJECTIVE: Cerebral cavernous malformations (CCM) occur in familial and sporadic forms that cannot be distinguished by phenotype. Mutations in Krit1, a gene located at the CCM1 locus on chromosome 7q21, account for the majority of familial CCM cases. The authors investigated the role that mutations at the CCM1 locus play in sporadic cavernomas and the prevalence of occult familial forms among symptomatic cavernomas. METHODS: The authors screened the DNA of cavernomas and adjacent normal brain tissue of 72 consecutive patients treated at the Neurosurgical Department/Ludwig-Maximilian University for mutations in Krit1. Eight of the patients had been suspected to have a mutation at CCM1, as they showed multiple cavernomas or clinically familial forms. RESULTS: None of the patients showed a mutation at the CCM1 site, either in cavernomas or in normal brain tissue. CONCLUSION: Mutations in Krit1 are seldom a cause of sporadic cavernomas.
OBJECTIVE:Cerebral cavernous malformations (CCM) occur in familial and sporadic forms that cannot be distinguished by phenotype. Mutations in Krit1, a gene located at the CCM1 locus on chromosome 7q21, account for the majority of familial CCM cases. The authors investigated the role that mutations at the CCM1 locus play in sporadic cavernomas and the prevalence of occult familial forms among symptomatic cavernomas. METHODS: The authors screened the DNA of cavernomas and adjacent normal brain tissue of 72 consecutive patients treated at the Neurosurgical Department/Ludwig-Maximilian University for mutations in Krit1. Eight of the patients had been suspected to have a mutation at CCM1, as they showed multiple cavernomas or clinically familial forms. RESULTS: None of the patients showed a mutation at the CCM1 site, either in cavernomas or in normal brain tissue. CONCLUSION: Mutations in Krit1 are seldom a cause of sporadic cavernomas.
Authors: Judith Gault; Issam A Awad; Peter Recksiek; Robert Shenkar; Robert Breeze; Michael Handler; Bette K Kleinschmidt-DeMasters Journal: Neurosurgery Date: 2009-07 Impact factor: 4.654
Authors: Amy L Akers; Eric Johnson; Gary K Steinberg; Joseph M Zabramski; Douglas A Marchuk Journal: Hum Mol Genet Date: 2008-12-16 Impact factor: 6.150