Molecular screening test in familial forms of cerebral cavernous malformation: The impact of the Multiplex Ligation-dependent Probe Amplification approach. Laboratory investigation

Journal of Neurosurgery

Volumn 110, Issue 5, 2009, Pages 929-934

  Penco, Silvana ^a   Ratti, Rachele ^a   Bianchi, Elena ^a   Citterio, Alberto ^a   Patrosso, Maria Cristina ^a   Marocchi, Alessandro ^a   Tassi, Laura ^a   La Camera, Alessandro ^a   Collice, Massimo ^a  

^a OSPEDALE NIGUARDA CA GRANDA   (Italy)

Author keywords

Cerebral cavernous malformation; Familial cavernous malformation; Gene mutation; Genetics; Ligation dependent probe amplification; Molecular analysis

Indexed keywords

CARBAMAZEPINE; PROTEIN; PROTEIN KRIT1; PROTEIN MGC4607; PROTEIN PDCD10; UNCLASSIFIED DRUG; APOPTOSIS REGULATORY PROTEIN; CARRIER PROTEIN; CCM2 PROTEIN, HUMAN; KRIT1 PROTEIN, HUMAN; MEMBRANE PROTEIN; MICROTUBULE ASSOCIATED PROTEIN; ONCOPROTEIN; PDCD10 PROTEIN, HUMAN;

ADULT; ARTICLE; BRAIN HEMORRHAGE; CANCER RADIOTHERAPY; CANCER SURGERY; CASE REPORT; CAVERNOUS HEMANGIOMA; CONTROLLED STUDY; CRANIOTOMY; DNA DETERMINATION; EXON; FAMILY HISTORY; FOLLOW UP; GENE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC ANALYSIS; GENETIC SCREENING; HEMATOMA; HETEROZYGOSITY; HOMONYMOUS HEMIANOPIA; HUMAN; KRIT1 GENE; LABORATORY TEST; MALE; MGC4607 GENE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PDCD10 GENE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; BRAIN TUMOR; FEMALE; GENETICS; HETEROZYGOTE; MOLECULAR PROBE; MUTATION; NUCLEIC ACID AMPLIFICATION;

APOPTOSIS REGULATORY PROTEINS; BRAIN NEOPLASMS; CARRIER PROTEINS; FEMALE; HEMANGIOMA, CAVERNOUS; HETEROZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MICROTUBULE-ASSOCIATED PROTEINS; MOLECULAR PROBES; MUTATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PROTO-ONCOGENE PROTEINS; YOUNG ADULT;

EID: 66849111916     PISSN: 00223085     EISSN: 19330693     Source Type: Journal    
DOI: 10.3171/2008.8.17640     Document Type: Article

References (29)

1. Battistini S, Rocchi R, Cerase A, Citterio A, Tassi L, Lando G, et al: Clinical, magnetic resonance imaging and genetic study of five Italian families with cerebral cavernous malformation. Arch Neurol 64:843-848, 2007 (Pubitemid 46919839)
2. Bergametti F, Denier C, Labauge P, Arnoult M, Boetto S, Clanet M, et al: Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am J Hum Genet 76:42-51, 2004
3. Cavè-Riant F, Denier C, Labauge P, Cécillon M, Maciazek J, Joutel A, 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
4. Clatterbuck RE, Eberhart CG, Crain BJ, Rigamonti D: 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
5. Craig HD, Guenel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, 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. Denier C, Goutagny S, Labauge P, Krivosic V, Arnoult M, Cousin A, et al: Mutations within the MGC4607 gene cause cerebral cavernous malformations. Am J Hum Genet 74: 326-337, 2004 (Pubitemid 38168620)
7. Dubovsky J, Zabramski JM, Kurth J, Spetzler RF, Rich SS, Orr HT, et al: Gene responsible for cavernous malformations of the brain maps to chromosome 7q. Hum Mol Genet 4: 453-458, 1995
8. Felbor U, Gaetzner S, Verlaan DJ, Vijzelaar R, Rouleau GA, Siegel AM: Large germline deletions and duplication in isolated cerebral cavernous malformation patients. Neurogenetics 8:149-153, 2007 (Pubitemid 46356248)
9. Gaetzner S, Stahl S, Sürücü O, Schaafhausen A, Halliger-Keller B, Bertalanffy H, et al: CCM1 gene deletion identified by MLPA in cerebral cavernous malformation. Neurosurg Rev 30:155-159, 2007 (Pubitemid 46393007)
10. Guarnieri V, Muscarella LA, Amoroso R, Quattrone A, Abate ME, Coco M, et al: Identification of two novel mutations and of a novel critical region in the Krit1 gene. Neurogenetics 8: 29-37, 2007 (Pubitemid 44951516)
11. Gunel M, Award IA, Finberg K, Anson JA, Steinberg GK, Batjer HH, et al: A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans. N Engl J Med 334:946-951, 1996 (Pubitemid 26114160)
12. Labauge P, Krivosic V, Denier C, Tournier-Lasserve E, Gaudric A: Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas. Arch Ophtalmol 124:885-886, 2006
13. Labauge P, Laberge S, Brunerau L, Levy C, Tournier-Lasserve E: Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families. Lancet 352:1892-1897, 1998
14. Laberge-le Couteulx S, Jung HH, Labauge P, Houtteville JP, Lescoat C, Cellion M, et al: Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet 23:189-193, 1999 (Pubitemid 29455391)
15. Laurans MS, DiLuna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, et al: Mutational analysis of 206 families with cavernous malformations. J Neurosurg 99:38-43, 2003 (Pubitemid 36753873)
16. Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, et al: Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet 73: 1459-1464, 2003 (Pubitemid 38037437)
17. Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, et al: Deletions in CCM2 are common cause of cerebral cavernous malformations. Am J Hum Genet 80:69-75, 2007 (Pubitemid 46047651)
18. Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, et al: Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. Hum Mutat 27:118, 2005
19. Marchuk DA, Gallione CJ, Morrison LA, Clericuzio CL, Hart BL, Kosofsky BE, et al: A locus for cerebral cavernous malformations maps to chromosome 7q in two families. Genomics 28:311-314, 1995
20. Marini V, Ferrera L, Dorcaratto A, Viale G, Origone P, Mareni C, et al: Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test. J Neurol Sci 212:75-78, 2003 (Pubitemid 36693968)
21. Moriarity JL, Wetzel M, Clatterbuck RE, Javedan S, Sheppard JM, Hoenig-Rigamonti K, et al: The natural history of cavernous malformations: a prospective study of 68 patients. Neurosurgery 44:1166-1173, 1999 (Pubitemid 29252736)
22. Ortiz L, Costa AF, Bellido ML, Solano F, Garcia-Moreno JM, Gamero MA, et al: Study of cerebral cavernous malformation in Spain and Portugal: high prevalence of a 14 bp deletion in exon 5 of MGC4607 (CCM2 gene). J Neurol 254:322-326, 2007 (Pubitemid 46399192)
23. Plummer NW, Gallione CJ, Srinivasan S, Zawistowski JS, Louis DN, Marchuk DA: Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral cavernous malformation pathogenesis. Am J Pathol 165:1509-1518, 2004
24. Retta SF, Avolio M, Francalanci F, Procida S, Balzac F, Degani S, et al: Identification of Krit1B: a novel alternative splicing isoform of cerebral cavernous malformation gene-1. Gene 325:63-78, 2004 (Pubitemid 38030377)
25. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57, 2002
26. Serebriiskii IG, Estojak J, Sonoda G, Testa JR, Golemis EA: Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat- containing protein encoded by a gene mapping to 7q21-22. Oncogene 15:1043-1050, 1997 (Pubitemid 27401958)
27. Verlaan DJ, Davemport WJ, Stefan H, Sure U, Siegel AM, Rouleau GA: Cerebral cavernous malformations: mutations in Krit1. Neurology 58:853-857, 2002 (Pubitemid 34242058)
28. Zabramski JM, Wascher TM, Spetzler RF, Johnson B, Golfinos J, Drayer BP, et al: The natural history of cavernous malformations: results of an ongoing study. J Neurosurg 80:422-432, 1994 (Pubitemid 24073002)
29. Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietz HC: Interaction between krit1 and icap1α infers perturbation of integrin β1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation. Hum Mol Genet 10:2953-2960, 2001 (Pubitemid 34030926)