Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene-phenotype correlations

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 11, 2012, Pages 2829-2834

  Nishida, Takeo ^a,b   Faughnan, Marie E ^b,c,d,e   Krings, Timo ^b,c   Chakinala, Murali ^b,f   Gossage, James R ^b,g   Young, William L ^b,h   Kim, Helen ^b,h,i   Pourmohamad, Tony ^h   Henderson, Katharine J ^a,b   Schrum, Stacy D ^b,f   James, Melissa ^b,g   Quinnine, Nancy ^b,h   Bharatha, Aditya ^d   terBrugge, Karel G ^b,c   White, Robert I ^a,b  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Rare Disease Clinical Research Network   (United States)

^c UNIVERSITY OF TORONTO   (Canada)

^d ST MICHAEL'S HOSPITAL   (Canada)

^e ST MICHAEL'S HOSPITAL   (Canada)

^f WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g MEDICAL COLLEGE OF GEORGIA   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Brain arteriovenous malformation; Genotype; Hereditary hemorrhagic telangiectasia; Intracranial hemorrhage

Indexed keywords

ACVRL1 GENE; ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; ARTICLE; BRAIN ARTERIOVENOUS MALFORMATION; BRAIN HEMORRHAGE; CHILD; CLINICAL FEATURE; DISEASE ASSOCIATION; ENG GENE; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE; RETROSPECTIVE STUDY; SCHOOL CHILD; SMAD4 GENE;

ACTIVIN RECEPTORS, TYPE II; ADOLESCENT; ADULT; AGED; ANTIGENS, CD; ARTERIOVENOUS FISTULA; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; MALE; MIDDLE AGED; MUTATION; RECEPTORS, CELL SURFACE; SMAD4 PROTEIN; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; YOUNG ADULT;

EID: 84867793428     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35622     Document Type: Article

References (18)

1. Abdalla SA, Letarte M. 2006. Hereditary haemorrhagic telangiectasia: Current views on genetics and mechanisms of disease. J Med Genet 43: 97-110.
2. Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, Gedge F, Tang W, Coon H, Mao R. 2006. Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations. Am J Med Genet Part A 140A: 463-470.
3. Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE, Jackson CE, Porteous ME, Marchuk DA. 1997. The activin receptor-like kinase 1 gene: Genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. Am J Hum Genet 61: 60-67.
4. Berg J, Porteous M, Reinhardt D, Gallione C, Holloway S, Umasunthar T, Lux A, McKinnon W, Marchuk D, Guttmacher A. 2003. Hereditary haemorrhagic telangiectasia: A questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. J Med Genet 40: 585-590.
5. Bharatha A, Faughnan ME, Kim H, Pourmohamad T, Krings T, Bayrak-Toydemir P, Pawlikowska L, McCulloch CE, Lawton MT, Dowd CF, Young WL, Terbrugge KG. 2012. Brain arteriovenous malformation multiplicity predicts the diagnosis of hereditary hemorrhagic telangiectasia: Quantitative assessment. Stroke 43: 72-78.
6. Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R. 2011. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet 48: 73-87.
7. Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA. 2004. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 363: 852-859.
8. Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan ME, Ganguly A, Garvie J, Henderson K, Kini U, Leedom T, Ludman M, Lux A, Maisenbacher M, Mazzucco S, Olivieri C, Ploos van Amstel JK, Prigoda-Lee N, Pyeritz RE, Reardon W, Vandezande K, Waldman JD, White RI Jr, Williams CA, Marchuk DA. 2010. Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet Part A 152A: 333-339.
9. Kjeldsen AD, Moller TR, Brusgaard K, Vase P, Andersen PE. 2005. Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia. J Intern Med 258: 349-355.
10. Letteboer TG, Mager JJ, Snijder RJ, Koeleman BP, Lindhout D, Ploos van Amstel JK, Westermann CJ. 2006. Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia. J Med Genet 43: 371-377.
11. Matsubara S, Mandzia JL, ter Brugge K, Willinsky RA, Faughnan ME. 2000. Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol 21: 1016-1020.
12. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, McCormick MK, Pericak-Vance MA, Heutink P, Oostra BA, Haitjema T, Westermann CJJ, Porteous ME, Guttmacher AE, Letarte M, Marchuk DA. 1994. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 8: 345-351.
13. McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA, Markel DS, Zolotor A, McKinnon WC, Vanderstoep JL, Jackson CE, Iannuzzi M, Collins FS, Boehnke M, Porteous ME, Guttmacher AE, Marchuk DA. 1994. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet 6: 197-204.
14. Putman CM, Chaloupka JC, Fulbright RK, Awad IA, White RI Jr, Fayad PB. 1996. Exceptional multiplicity of cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). AJNR Am J Neuroradiol 17: 1733-1742.
15. Sabba C, Pasculli G, Lenato GM, Suppressa P, Lastella P, Memeo M, Dicuonzo F, Guant G. 2007. Hereditary hemorrhagic telangiectasia: Clinical features in ENG and ALK1 mutation carriers. J Thromb Haemost 5: 1149-1157.
16. Shovlin CL, Hughes JM, Tuddenham EG, Temperley I, Perembelon YF, Scott J, Seidman CE, Seidman JG. 1994. A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nat Genet 6: 205-209.
17. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H. 2000. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 91: 66-67.
18. Vincent P, Plauchu H, Hazan J, Faure S, Weissenbach J, Godet J. 1995. A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet 4: 945-949.