Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations

The American Journal of Human Genetics - Tập 74 - Trang 326-337 - 2004
C. Denier1,2, S. Goutagny1, P. Labauge1,3, V. Krivosic1, M Arnoult1, A. Cousin1, A.L. Benabid4, J. Comoy5, P. Frerebeau6, B. Gilbert7, J.P. Houtteville8, M. Jan9, F. Lapierre10, H. Loiseau11, P. Menei12, P. Mercier12, J.J. Moreau13, A. Nivelon-Chevallier14, F. Parker5, A.M. Redondo14
1INSERM E365, Faculté de Médecine Lariboisière, Paris
2Laboratoire de Cytogénétique, Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris, Paris
3Service de Neurologie, CHU Montpellier Nîmes, Nîmes, France
4Service de Neurochirurgie, CHU de Grenoble, Grenoble, France
5Service de Neurochirurgie, CHU de Kremlin-Bicêtre, Kremlin-Bicêtre, France
6Service de Neurochirurgie CHU de Montpellier, Montpellier, France
7Génétique, CHU de Limoges, Limoges, France
8Service de Neurochirurgie, CHU de Caen, Caen, France
9Service de Neurochirurgie, CHU de Tours, Tours
10Service de Neurochirurgie, CHU de Poitiers, Poitiers, France
11Service de Neurochirurgie, CHU de Toulouse, Toulouse
12Service de Neurochirurgie, CHU de Angers, Angers, France
13Service de Neurochirurgie, CHU de Limoges, Limoges, France
14Génétique, CHU de Dijon, Dijon

Tài liệu tham khảo

Cave-Riant, 2002, Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with cerebral cavernous malformations, Eur J Hum Genet, 10, 733, 10.1038/sj.ejhg.5200870 Chen, 2002, Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity, J Neurol Sci, 196, 91, 10.1016/S0022-510X(02)00031-X Couteulx, 2002, A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas, Arch Ophthalmol, 120, 217 Craig, 1998, Multilocus linkage identifies two new loci for a Mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27, Hum Mol Genet, 7, 1851, 10.1093/hmg/7.12.1851 Davenport, 2001, CCM1 gene mutations in families segregating cerebral cavernous malformations, Neurology, 56, 540, 10.1212/WNL.56.4.540 Dubovsky, 1995, A gene responsible for cavernous malformations of the brain maps to chromosome 7q, Hum Mol Genet, 4, 453, 10.1093/hmg/4.3.453 Dupre, 2003, Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation, Can J Neurol Sci, 30, 122, 10.1017/S0317167100053385 Eerola, 2000, KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation, Hum Mol Genet, 22, 1351, 10.1093/hmg/9.9.1351 European Chromosome 16 Tuberous Sclerosis Consortium, The, 1993, Identification and characterization of the tuberous sclerosis gene on chromosome 16, Cell, 75, 1305, 10.1016/0092-8674(93)90618-Z Labauge, 1998, Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families, Lancet, 352, 1892, 10.1016/S0140-6736(98)03011-6 Laberge, 1999, Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families, Eur J Hum Genet, 7, 499, 10.1038/sj.ejhg.5200324 Laberge-le Couteulx, 1999, Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas, Nat Genet, 23, 189, 10.1038/13815 Laurans, 2003, Mutational analysis of 206 families with cavernous malformations, J Neurosurg, 99, 38, 10.3171/jns.2003.99.1.0038 Lucas, 2003, Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene, BMC Neurol, 3, 5, 10.1186/1471-2377-3-5 Lucas, 2001, Germline mutations in the CCM1 gene, encoding KRIT1, cause cerebral cavernous malformations, Ann Neurol, 49, 529, 10.1002/ana.105 Marini, 2003, Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test, J Neurol Sci, 212, 75, 10.1016/S0022-510X(03)00108-4 Musunuru, 2003, Widespread central nervous system cavernous malformations associated with cafe-au-lait skin lesions: case report, J Neurosurg, 99, 412, 10.3171/jns.2003.99.2.0412 Otten, 1989, 131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies, Neurochirurgie, 35, 82 Rigamonti, 1988, Cerebral cavernous malformations: incidence and familial occurrence, N Engl J Med, 319, 343, 10.1056/NEJM198808113190605 Robinson, 1991, Natural history of the cavernous angiomas, J Neurosurg, 75, 709, 10.3171/jns.1991.75.5.0709 Russel, 1989, 730 Sahoo, 2001, Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene, Genomics, 71, 123, 10.1006/geno.2000.6426 Sahoo, 1999, Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1), Hum Mol Genet, 8, 2325, 10.1093/hmg/8.12.2325 Serebriiskii, 1997, Association of Krev-1/rap1a with KRIT1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22, Oncogene, 15, 1043, 10.1038/sj.onc.1201268 Trofatter, 1993, A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor, Cell, 72, 791, 10.1016/0092-8674(93)90406-G Verlaan, 2002, Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation, Am J Hum Genet, 70, 1564, 10.1086/340604 Viskochil, 1990, Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus, Cell, 62, 187, 10.1016/0092-8674(90)90252-A Xu, 2003, A novel Krit-1 mutation in Han family with cerebral cavernous malformation, Zhonghua Bing Li Xue Za Zhi, 32, 220 Zawistowski, 2002, KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis, Hum Mol Genet, 11, 389, 10.1093/hmg/11.4.389 Zhang, 2001, Interaction between Krit1 and Icap1 infers perturbation of integrin β1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation, Hum Mol Genet, 10, 2953, 10.1093/hmg/10.25.2953 Zhang, 2000, Mutations in KRIT1 in familial cerebral cavernous malformations, Neurosurgery, 46, 1272, 10.1097/00006123-200005000-00064