Mutational analysis of 206 families with cavernous malformations

Journal of Neurosurgery

Volumn 99, Issue 1, 2003, Pages 38-43

  Laurans, Maxwell S H ^b   DiLuna, Michael L ^b   Shin, Dana ^b   Niazi, Faheem ^b   Voorhees, Jennifer R ^b   Nelson Williams, Carol ^b   Johnson, Eric W ^b   Siegel, Adrian M ^b   Steinberg, Gary K ^b   Berg, Michel J ^b   Scott, R Michael ^b   Tedeschi, Gioacchino ^b   Enevoldson, T Peter ^b   Anson, John ^b   Rouleau, Guy A ^b   Ogilvy, Christopher ^b   Awad, Issam A ^b   Lifton, Richard P ^b   Gunel, Murat ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NONE

Author keywords

Cavernous angioma; Cerebral cavernous malformation; KRIT1 gene

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CAVERNOUS MALFORMATION; CEREBRAL CAVERNOUS MALFORMATION; CONGENITAL BLOOD VESSEL MALFORMATION; CONTROLLED STUDY; ETHNIC GROUP; FAMILY; FAMILY HISTORY; FRAMESHIFT MUTATION; GENE; GENE LOCUS; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IMMIGRANT; INHERITANCE; KREV INTERACTION TRAPPED 1 GENE; LINKAGE ANALYSIS; LYMPHOCYTE; MAJOR CLINICAL STUDY; MEXICO; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; UNITED STATES;

EID: 0037971118     PISSN: 00223085     EISSN: None     Source Type: Journal    
DOI: 10.3171/jns.2003.99.1.0038     Document Type: Article

References (27)

1. Cave-Riant F, Denier C, Labauge P, et al: Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with cerebral cavernous malformations. Eur J Hum Genet 10:733-740, 2002
2. Chen DH, Lipe HP, Qin Z, et al: Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity. J Neurol Sci 196:91-96, 2002
3. Clatterbuck RE, Eberhart CG, Crain BJ, et al: Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations. J Neurol Neurosurg Psychiatry 71:188-192, 2001
4. Couteulx SL, Brezin AP, Fontaine B, et al: A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas. Arch Ophthalmol 120:217-218, 2002
5. Craig HD, Gunel M, Cepeda O, et al: 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 7:1851-1858, 1998
6. Davenport WJ, Siegel AM, Dichgans J, et al: CCM1 gene mutations in families segregating cerebral cavernous malformations. Neurology 56:540-543, 2001
7. Dubovsky J, Zabrarnski JM, Kurth J, et al: A gene responsible for cavernous malformations of the brain maps to chromosome 7q. Hum Mol Genet 4:453-458, 1995
8. Eerola I, McIntyre B, Vikkula M: Identification of eight novel 5′exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1. Biochim Biophys Acta 1517:464-467, 2001
9. Frischmeyer PA, Dietz HC: Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet 8:1893-1900, 1999
10. Gunel M, Awad IA, Anson J, et al: Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. Proc Natl Acad Sci USA 92:6620-6624, 1995
11. Gunel M, Awad IA, Finberg K, et al: A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans. N Engl J Med 334:946-951, 1996
12. Gunel M, Awad IA, Finberg K, et al: Genetic heterogeneity of inherited cerebral cavernous malformation. Neurosurgery 38:1265-1271, 1996
13. Hayman LA, Evans RA, Ferrell RE, et al: Familial cavernous angiomas: natural history and genetic study over a 5-year period. Am J Med Genet 11:147-160, 1982
14. Johnson EW, Iyer LM, Rich SS, et al: Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig. Genome Res 5:368-380, 1995
15. Laberge-le Couteulx S, Jung HH, Labauge P, et al: Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet 23:189-193, 1999
16. Lathrop GM, Lalouel JM, Julier C, et al: Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446, 1984
17. Lucas M, Solano F, Zayas MD, et al: Spanish families with cerebral cavernous angioma do not bear 742C→T Hispanic American mutation of the KRIT1 gene. Ann Neurol 47:836, 2000 (Letter)
18. Maquat LE: Nonsense-mediated mRNA decay. Curr Biol 12: R196-R197, 2002
19. Robinson JR, Awad IA, Little JR: Natural history of the cavernous angioma. J Neurosurg 75:709-714, 1991
20. Sahoo T, Goenaga-Diaz E, Serebriiskii IG, et al: Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene. Genomics 71:123-126, 2001
21. Sahoo T, Johnson EW, Thomas JW, et al: Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). Hum Mol Genet 8:2325-2333, 1999
22. Serebriiskii I, Estojak J, Sonoda G, et al: Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22. Oncogene 15:1043-1049, 1997
23. Verlaan DJ, Davenport WJ, Stefan H, et al: Cerebral cavernous malformations: mutations in Krit1. Neurology 58:853-857, 2002
24. Verlaan DJ, Siegel AM, Rouleau GA: Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation. Am J Hum Genet 70:1564-1567, 2002
25. Wong JH, Awad IA, Kim JH: Ultrastructural pathological features of cerebrovascular malformations: a preliminary report. Neurosurgery 46:1454-1459, 2000
26. Zhang J, Clatterbuck RE, Rigamonti D, et al: Cloning of the murine Krit1 cDNA reveals novel mammalian 5′ coding exons. Genomics 70:392-395, 2000
27. Zhang J, Clatterbuck RE, Rigamonti D, et al: Mutations in KRIT1 in familial cerebral cavernous malformations. Neurosurgery 46:1272-1279, 2000