Genetic dissection of the familial cerebral arteriovenous malformation

Japanese Journal of Neurosurgery

Volumn 13, Issue 12, 2004, Pages 837-845

  Takenaka, Katsunobu ^b   Muroi, Junko ^a   Yamada, Shigeki ^a   Yamakawa, Hiroyasu ^c   Abe, Masamitsu ^d   Tabuchi, Kazuo ^d   Koizumi, Akio ^a  

^a KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Takayama Red Cross Hospital   (Japan)

^c Gifu Pref Gero Hot Springs Hospital   (Japan)

^d SAGA UNIVERSITY   (Japan)

Author keywords

Cavernous malformation; Cerebral arteriovenous malformation; Ephrin B2; Genetic analysis; Venous malformation

Indexed keywords

EPHRIN B2;

ADOLESCENT; ADULT; AGED; ALLELE; BRAIN ARTERIOVENOUS MALFORMATION; CHILD; CHROMOSOME 13Q; CHROMOSOME 16P; CHROMOSOME 20Q; CHROMOSOME 6Q; CHROMOSOME 7P; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER PROGRAM; CONFERENCE PAPER; EUROPE; EXON; FAMILIAL DISEASE; FEMALE; GENE LOCATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC LINKAGE; GENOME ANALYSIS; HERITABILITY; HUMAN; JAPAN; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NONPARAMETRIC TEST; PENETRANCE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOM; TECHNIQUE; UNITED STATES;

EID: 10844236365     PISSN: 0917950X     EISSN: None     Source Type: Journal    
DOI: 10.7887/jcns.13.837     Document Type: Conference Paper

References (38)

1. Aberfeld DC, Rao KR: Familial arterriovenous malformation of the brain. Neurology 31: 184-186, 1981.
2. Barre RG, Suter CG, Rosenblum WI: Familial vascular malformation or chance occurrence? Case report of two affected family members. Neurology 28: 98-100, 1978.
3. Boyd MC, Steinbok P, Paty DW: Familial arteriovenous malformations: Report of four cases in one family. J Neurosurg 62: 597-599, 1985.
4. Brilli RJ, Sacchetti A, Neff S: Familial arteriovenous malformations in children. Pediatr Emerg Care 11: 376-378, 1995.
5. Bucci MN, Chandler WF, Gebarski SS, Mckeever PE: Multiple progressive familial thrombosed arteriovenous malformations. Neurosurgery 19: 401-404, 1986.
6. Dakeishi M, Shioya T, Wada Y, Shindo T, Otaka K, Manabe M, Nozaki J, Inoue S, Koizumi A: Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the Northern part of Japan. Hum Mutat 19: 140-148, 2002.
7. Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M: Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 73: 1240-1249, 2003.
8. Goto S, Abe M, Tsuji T, Tabuchi K: Familial arteriovenous malformations of the brain: Two case reports. Neurol Med Chir (Tokyo) 34: 221-224, 1994.
9. Günel M, Awad IA, Anson J, Lifton RP: Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. Proc Natl Acad Sci USA 92: 6620-6624, 1995.
10. Günel M, Awad IA, Finberg K, Anson JA, Steinberg GK, Batjer HH, Kopitnik TA, Morrison L, Giannotta SL, Nelson-Williams C, Lifton RP: A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans. N Engl J Med 334: 946-951, 1996.
11. Hashimoto T, Lawton MT, Wen G, Yang G-Y, Chaly T, Stewart CL, Dressman HK, Barbaro NM, Marchuk DA, Young WL: Gene microarray analysis of human brain arteriovenous malformations. Neurosurgry 54: 410-425, 2004.
12. Herzig R, Burval S, Vladyka V, Janouskova L, Krivanek P, Krupka B, Vlachova I, Urbanek K: Familial occurrence of cerebral arteriovenous malformation in sisters: Case report and review of the literature. Eur J Neurol 7: 95-100, 2000.
13. Kamiryo T, Nelson PK, Bose A, Zalzal P, Jafar JJ: Familial arteriovenous malformations in siblings. Surg Neurol 53: 255-259, 2000.
14. Kayo T, Koizumi A: Mapping of murine diabetogenic gene mody on chromosome 7 at D7 Mit258 and its involvement in pancreatic islet and beta cell development during the perinatal period. J Clin Invest 101: 2112-2118, 1998.
15. Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo RM, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardinil I, Visser G, Eggermann T, Lee P, Chairoungdua A, Kanai Y, Verrey F, Gahl WA, Koizumi A: Mutations in SLC6A19 (hB0AT1) are associated with hartnup disorder. NatGenet, In press
16. Laing JW, Smith RR: Intracranial arteriovenous malformation in sisters: A case report. J Miss State Med Assoc 15: 203-206, 1974.
17. Larsen PD, Hellbusch LC, Lefkowitz DM, Schaefer GB: Cerebral arteriovenous malformation in three successive generations. Pediatr Neurol 17: 74-76, 1997.
18. Laurans MSH, Diluna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, Johnson EW, Siegel AM, Steinberg GK, Berg MJ, Scott M, Tedeschi G, Enevoldson TP, Anson J, Rouleau GA, Ogilvy C, Awad IA, Lifton RP, Gunel M: Mutational analysis of 206 families with cavernous malformations. J Neurosurg 99: 38-43, 2003.
19. Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, Takada G, Matsuishi T, Yoshino M, Kato H, Ohura T, Tsujimoto G, Hayakawa J, Shimane M, Tsuji A: Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet 21: 91-94, 1999.
20. Nozaki J, Dakeishi M, Ohura T, Inoue K, Manabe M, Wada Y, Koizumi A: Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder. Biochem Biophys Res Commun 284: 255-260, 2001.
21. Onda H, Kasuya H, Yoneyama T, Takakura K, Hori T, Takeda J, Nakajima T, Inoue I: Genomewide-linkage and haplotype-association studies map intracranial aneurysm to chromosome 7q11. Am J Hum Genet 69: 804-819, 2001.
22. Patan S: Vasculogenesis and angiogenesis. Cancer Treat Res 117: 3-32, 2004.
23. Sakurai K, Horiuchi Y, Ikeda H, Ikezaki K, Yoshimoto T, Fukui M, Arinami T: A novel susceptibility locus for moyamoya disease on chromosome 8q23. J Hum Genet 49: 278-281, 2004.
24. Shoji Y, Koizumi A, Kayo T, Ohata T, Takahashi T, Harada K, Takada G: Evidence for linkage of human primary systemic carnitine deficiency with D5S436; A novel gene locus on chromosome 5q. Am J Hum Genet 63: 101-108, 1998.
25. Snead OC, Acker JD, Morawets R: Familial arteriovenous malformation. Ann Neurol 5: 585-587, 1979.
26. Spetzler RF, Martin NA: A proposed grading system for arteriovenous malformations. J Neurosurg 65: 476-483, 1986.
27. Stoll W, Wolfram A: Intrakranielle familiäre GefäBanomalie aus hals-nasen-ohrenärtztlicher und neurologischer Sicht. HNO 25: 7-12, 1977.
28. Clin Neurosci 2: 1103-1107, 1984.
29. Jpn J Neurosurg 12: 161-165, 2003.
30. Tandan R, Mohire MD, Dorwart RH: Intracranial arteriovenous malformations in two brothers with myotonic dystrophy. Clin Neurol Neurosurg 93: 143-147, 1991.
31. Tonnis W, Large-Cosack H: Klinik, operative behandlung und prognose der arterio-venösen angiome des gehirns und seiner Häutel: Ein bericht über 72 Fälle. Deutsche Z Nervenheikunde 170: 460-485, 1953.
32. Weyer U, Freitag J, Russ C, Kowalzick L, Zeumer H, Breitbart EW: Association of arteriovenous and cavernous angioma of the head and neck area. Dtsch Med Wochenschr 116: 416-420, 1991.
33. Yamada S, Utsunomiya M, Inoue K, Nozaki K, Miyamoto S, Hashimoto N, Takenaka K, Yoshinaga T, Koizumi A: Absence of linkage of familial intracranial aneurysms to 7q11 in highly aggregated Japanese families. Stroke 34: 892-900, 2003.
34. Yokoyama K, Asano Y, Murakawa T, Takada M, Ando T, Sakai N, Yamada H, Iwata H: Familial occurrence of arteriovenous malformation of the brain. J Neurosurg 74: 585-589, 1991.
35. Yoshioka M, Kayo T, Ikeda T, Koizumi A: A novel locus, Mody 4, distal to D7 Mit189 on chromosome 7 determines early-onset NIDDM in nonobese C57BL/6 (Akita) mutant mice. Diabetes 46: 887-894, 1997.
36. Zellen RT, Buchheit WA: Multiple intracranial arteriovenous malformations: Case report. Neurosugery 17: 88-93, 1985.