Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations

American Journal of Human Genetics

Volumn 74, Issue 2, 2004, Pages 326-337

  Denier, C ^a,b   Goutagny, S ^a   Labauge, P ^a,d   Krivosic, V ^a   Arnoult, M ^a   Cousin, A ^a   Benabid, A L ^e   Comoy, J ^f   Frerebeau, P ^d   Gilbert, B ^g   Houtteville, J P ^h   Jan, M ⁱ   Lapierre, F ^j   Loiseau, H ^k   Menei, P ^l   Mercier, P ^l   Moreau, J J ^g   Nivelon Chevallier, A ^m   Parker, F ^f   Redondo, A M ^m   Scarabin, J M ⁿ   Tremoulet, M ^k   Zerah, M ^c   Maciazek, J ^a   Tournier Lasserve, E ^a,b,o   more..

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b HÔPITAL LARIBOISIÈRE   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d MONTPELLIER UNIVERSITY HOSPITAL   (France)

^e GRENOBLE UNIVERSITY HOSPITAL   (France)

^f BICÊTRE HOSPITAL   (France)

^g LIMOGES UNIVERSITY HOSPITAL   (France)

^h CAEN UNIVERSITY HOSPITAL   (France)

ⁱ UNIVERSITY HOSPITAL OF TOURS   (France)

^j POITIERS UNIVERSITY HOSPITAL   (France)

^k TOULOUSE UNIVERSITY HOSPITAL   (France)

^l ANGERS UNIVERSITY HOSPITAL   (France)

^m DIJON UNIVERSITY HOSPITAL   (France)

ⁿ RENNES UNIVERSITY HOSPITAL   (France)

^o INSERM   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN MALFORMATION; CAVERNOUS HEMANGIOMA; CEREBRAL CAVERNOUS MALFORMATION; CHROMOSOME 7Q; CONGENITAL BLOOD VESSEL MALFORMATION; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE SEGREGATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MGC4067 GENE; MORPHOGENESIS; MULTIGENE FAMILY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

EID: 10744230011     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/381718     Document Type: Article

References (31)

1. Cave-Riant F, Denier C, Labauge P, Cécillon M, Maciazek J, Joutel A, Laberge-le Couteulx S, Tournier-Lasserve E (2002) Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with cerebral cavernous malformations. Eur J Hum Genet 10:733-740
2. Chen DH, Lipe HP, Qin Z, Bird TD (2002) Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity. J Neurol Sci 196:91-96
3. Couteulx SL, Brezin AP, Fontaine B, Tournier-Lasserve E, Labauge P (2002) A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas. Arch Ophthalmol 120:217-218
4. Craig HD, Gunel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, Ogilvy CS, Berg MJ, Crawford SC, Scott RM, Sabroe R, Kennedy CT, Mettler G, Beis MJ, Fryer A, Awad IA, Lifton RP (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 7:1851-1858
5. Davenport WJ, Siegel AM, Dichgans J, Drigo P, Mammi I, Pereda P, Wood NW, Rouleau GA (2001) CCM1 gene mutations in families segregating cerebral cavernous malformations. Neurology 56:540-543
6. Dubovsky J, Zabramski JM, Kurth J, Spetzler RF, Rich SS, Orr HT, Weber JL (1995) A gene responsible for cavernous malformations of the brain maps to chromosome 7q. Hum Mol Genet 4:453-458
7. Dupre N, Verlaan DJ, Hand CK, Laurent SB, Turecki G, Davenport W, Acciarri N, Dichgans J, Ohkuma A, Siegel A, Rouleau GA (2003) Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation. Can J Neurol Sci 30:122-128
8. Eerola I, Plate KH, Spiegel R, Boon LM, Mulliken JB, Vikkula M (2000) KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. Hum Mol Genet 22:1351-1355
9. European Chromosome 16 Tuberous Sclerosis Consortium, The (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75:1305-1315
10. Labauge P, Laberge S, Brunereau L, Levy C, Maciazek J, Tournier-Lasserve E (1998) Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families. Lancet 352:1892-1897
11. Laberge S, Labauge P, Marechal E, Maciazek J, Tournier-Lasserve E (1999) Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families. Eur J Hum Genet 7:499-504
12. Laberge-le Couteulx S, Jung HH, Labauge P, Houtteville JP, Lescoat C, Cecillon M, Marechal E, Joutel A, Bach JF, Tourmer-Lasserve E (1999) Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet 23:189-193
13. Laurans MS, DiLuna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, Johnson EW, Siegel AM, Steinberg GK, Berg MJ, Scott RM, Tedeschi G, Enevoldson TP, Anson J, Rouleau GA, Ogilvy C, Awad IA, Lifton RP, Gunel M (2003) Mutational analysis of 206 families with cavernous malformations. J Neurosurg 99:38-43
14. Lucas M, Costa AF, Garcia-Moreno JM, Solano F, Gamero MA, Izquierdo G (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
15. Lucas M, Costa AF, Montori M, Solano F, Zayas MD, Izquierdo G (2001) Germline mutations in the CCM1 gene, encoding KRIT1, cause cerebral cavernous malformations. Ann Neurol 49:529-532
16. Marini V, Ferrera L, Dorcaratto A, Viale G, Origone P, Mareni C, Garre C (2003) Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test. J Neurol Sci 212:75-78
17. Musunuru K, Hillard VH, Murali R (2003) Widespread central nervous system cavernous malformations associated with cafe-au-lait skin lesions: case report. J Neurosurg 99:412-415
18. Otten P, Pizzolato GP, Rilliet B, Berney J (1989) 131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies. Neurochirurgie 35: 82-83 and 128-131
19. Rigamonti D, Hadley MN, Drayer BP, Johnson PC, Hoenig-Rigamonti K, Knight JT, Spetzler RF (1988) Cerebral cavernous malformations: incidence and familial occurrence. N Engl J Med 319:343-347
20. Robinson JR, Awad IA, Little JR (1991) Natural history of the cavernous angiomas. J Neurosurg 75:709-714
21. Russel DS, Rubinstein LJ (1989) Pathology of tumors of the nervous system, 5th ed. Williams and Wilkins, Baltimore, pp 730-736
22. Sahoo T, Goenaga-Diaz E, Serebriiskii IG, Thomas JW, Kotova E, Cuellar JG, Peloquin JM, Golemis E, Beitinjaneh F, Green ED, Johnson EW, Marchuk DA (2001) Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene. Genomics 71:123-126
23. Sahoo T, Johnson EW, Thomas JW, Kuehl PM, Jones TL, Dokken CG, Touchman JW, Gallione CJ, Lee-Lin SQ, Kosofsky B, Kurth JH, Louis DN, Mettler G, Morrison L, Gil-Nagel A, Rich SS, Zabramski JM, Boguski MS, Green ED, Marchuk DA (1999) Mutations in the gene encoding KRIT1, a Krev1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). Hum Mol Genet 8:2325-2333
24. Serebriiskii I, Estojak J, Sonoda G, Testa JR, Golemis EA (1997) Association of Krev-1/rapla with KRIT1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22. Oncogene 15:1043-1049
25. Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, et al (1993) A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72:791-800
26. Verlaan DJ, Siegel AM, Rouleau GA (2002) Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation. Am J Hum Genet 70:1564-1567
27. Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, et al (1990) Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62:187-192
28. Xu YL, Zhao JZ, Wu B, Zhong H, Wang S, Heng WJ (2003) A novel Krit-1 mutation in Han family with cerebral cavernous malformation. Zhonghua Bing Li Xue Za Zhi 32:220-225
29. Zawistowski JS, Serebriiski IG, Lee MF, Golemis EA, Marchuk DA (2002) KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCMI) pathogenesis. Hum Mol Genet 11:389-396
30. Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietz HC (2001) Interaction between Krit1 and Icap1 infers perturbation of integrin β1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation. Hum Mol Genet 10:2953-2960
31. Zhang J, Clatterbuck RE, Rigamonti D, Dietz HC (2000) Mutations in KRIT1 in familial cerebral cavernous malformations. Neurosurgery 46:1272-1277