Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Kim, Mi Jung ^a   Kim, Seon Tae ^a   Lee, Hyoung Doo ^b   Lee, Kyu Yong ^c   Seo, Jiyoung ^a   Lee, Jae Bom ^a,d   Lee, Young Jae ^a   Oh, Suk P ^a,e  

^a Gachon University   (South Korea)

^b Pusan National University School of Medicine   (South Korea)

^c Hanyang University College of Medicine   (South Korea)

^d Hallym University   (South Korea)

^e UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; ENDOGLIN; INTERLEUKIN 4; ACTIVIN RECEPTOR 2; ACVRL1 PROTEIN, HUMAN; CELL SURFACE RECEPTOR; ENG PROTEIN, HUMAN; LEUKOCYTE ANTIGEN;

5' UNTRANSLATED REGION; ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; ARTERIOVENOUS MALFORMATION; ARTICLE; CLINICAL ARTICLE; CODON; COIL EMBOLIZATION; EPISTAXIS; EXON; FAMILY HISTORY; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; IN VITRO STUDY; MALE; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; RENDU OSLER WEBER DISEASE; ASIAN; CHILD; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; START CODON;

ACTIVIN RECEPTORS, TYPE II; ADOLESCENT; AGED; AGED, 80 AND OVER; ANTIGENS, CD; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CODON, INITIATOR; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; RECEPTORS, CELL SURFACE; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 80053450060     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-130     Document Type: Article

References (34)

1. Shovlin CL. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev 2010, 24:203-219. 10.1016/j.blre.2010.07.001, 20870325.
2. Kjeldsen AD, Vase P, Green A. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med 1999, 245:31-39. 10.1046/j.1365-2796.1999.00398.x, 10095814.
3. 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 2002, 19:140-148. 10.1002/humu.10026, 11793473.
4. Abdalla SA, Letarte M. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J Med Genet 2006, 43:97-110. 2603035, 15879500.
5. Lenato GM, Guanti G. Hereditary Haemorrhagic Telangiectasia (HHT): genetic and molecular aspects. Curr Pharm Des 2006, 12:1173-1193. 10.2174/138161206776361291, 16611099.
6. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994, 8:345-351. 10.1038/ng1294-345, 7894484.
7. McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA, Markel DS, Zolotor A, McKinnon WC, Vanderstoep JL, et al. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet 1994, 6:197-204. 10.1038/ng0294-197, 8162075.
8. Shovlin CL, Hughes JM, Tuddenham EG, Temperley I, Perembelon YF, Scott J, Seidman CE, Seidman JG. A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nat Genet 1994, 6:205-209. 10.1038/ng0294-205, 8162076.
9. Vincent P, Plauchu H, Hazan J, Faure S, Weissenbach J, Godet J. A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet 1995, 4:945-949. 10.1093/hmg/4.5.945, 7633456.
10. Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996, 13:189-195. 10.1038/ng0696-189, 8640225.
11. Johnson DW, Berg JN, Gallione CJ, McAllister KA, Warner JP, Helmbold EA, Markel DS, Jackson CE, Porteous ME, Marchuk DA. A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. Genome Res 1995, 5:21-28. 10.1101/gr.5.1.21, 8717052.
12. Lesca G, Burnichon N, Raux G, Tosi M, Pinson S, Marion MJ, Babin E, Gilbert-Dussardier B, Riviere S, Goizet C, et al. Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. Human mutation 2006, 27(6):598.
13. Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. European journal of human genetics: EJHG 2009, 17(7):860-871. 10.1038/ejhg.2009.35, 2986493, 19337313.
14. HHT Mutation Database. Database Last Updated: 09/19/2009., http://www.hhtmutation.org/index.php
15. Cole SG, Begbie ME, Wallace GM, Shovlin CL. A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. Journal of medical genetics 2005, 42(7):577-582. 10.1136/jmg.2004.028712, 1736109, 15994879.
16. Bayrak-Toydemir P, McDonald J, Akarsu N, Toydemir RM, Calderon F, Tuncali T, Tang W, Miller F, Mao R. A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. American journal of medical genetics 2006, 140(20):2155-2162.
17. Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004, 363(9412):852-859. 10.1016/S0140-6736(04)15732-2, 15031030.
18. David L, Mallet C, Keramidas M, Lamande N, Gasc JM, Dupuis-Girod S, Plauchu H, Feige JJ, Bailly S. Bone morphogenetic protein-9 is a circulating vascular quiescence factor. Circulation research 2008, 102(8):914-922. 10.1161/CIRCRESAHA.107.165530, 2561062, 18309101.
19. Ricard N, Bidart M, Mallet C, Lesca G, Giraud S, Prudent R, Feige JJ, Bailly S. Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations. Blood 2010, 116(9):1604-1612. 10.1182/blood-2010-03-276881, 20501893.
20. David L, Mallet C, Mazerbourg S, Feige JJ, Bailly S. Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells. Blood 2007, 109(5):1953-1961. 10.1182/blood-2006-07-034124, 17068149.
21. Lee ST, Kim JA, Jang SY, Kim DK, Do YS, Suh GY, Kim JW, Ki CS. Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia. Journal of Korean medical science 2009, 24(1):69-76. 10.3346/jkms.2009.24.1.69, 2650970, 19270816.
22. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000, 91(1):66-67. 10.1002/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P, 10751092.
23. Spandidos A, Wang X, Wang H, Seed B. PrimerBank: a resource of human and mouse PCR primer pairs for gene expression detection and quantification. Nucleic acids research 2010, (38 Database):D792-799.
24. Spandidos A, Wang X, Wang H, Dragnev S, Thurber T, Seed B. A comprehensive collection of experimentally validated primers for Polymerase Chain Reaction quantitation of murine transcript abundance. BMC Genomics 2008, 9:633. 10.1186/1471-2164-9-633, 2631021, 19108745.
25. Wang X, Seed B. A PCR primer bank for quantitative gene expression analysis. Nucleic acids research 2003, 31(24):e154.26.
26. Oh K-W, Chang W-Y, Kim H-Y, Koh S-H, Han G-S, Lee Y-J, Lee K-Y. A Case of Hereditary Hemorrhagic Telangiectasia Presented with Seizure. Korean J Stroke 2007, 9(1):62-65.
27. Dinkel HP, Triller J. Pulmonary arteriovenous malformations: embolotherapy with superselective coaxial catheter placement and filling of venous sac with Guglielmi detachable coils. Radiology 2002, 223(3):709-714. 10.1148/radiol.2233010953, 12034939.
28. Pece N, Vera S, Cymerman U, White RI, Wrana JL, Letarte M. Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. The Journal of clinical investigation 1997, 100(10):2568-2579. 10.1172/JCI119800, 508458, 9366572.
29. Hentze MW, Kulozik AE. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 1999, 96(3):307-310. 10.1016/S0092-8674(00)80542-5, 10025395.
30. Bhuvanagiri M, Schlitter AM, Hentze MW, Kulozik AE. NMD: RNA biology meets human genetic medicine. The Biochemical journal 2010, 430(3):365-377. 10.1042/BJ20100699, 20795950.
31. Bossler AD, Richards J, George C, Godmilow L, Ganguly A. Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. Human mutation 2006, 27(7):667-675. 10.1002/humu.20342, 16752392.
32. Kozak M. Pushing the limits of the scanning mechanism for initiation of translation. Gene 2002, 299(1-2):1-34. 10.1016/S0378-1119(02)01056-9, 12459250.
33. Sadick H, Riedel F, Naim R, Goessler U, Hormann K, Hafner M, Lux A. Patients with hereditary hemorrhagic telangiectasia have increased plasma levels of vascular endothelial growth factor and transforming growth factor-beta1 as well as high ALK1 tissue expression. Haematologica 2005, 90(6):818-828.
34. Paquet ME, Pece-Barbara N, Vera S, Cymerman U, Karabegovic A, Shovlin C, Letarte M. Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function. Human molecular genetics 2001, 10(13):1347-1357. 10.1093/hmg/10.13.1347, 11440987.