Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients

Human Genetics

Volumn 116, Issue 1-2, 2005, Pages 8-16

  Letteboer, T G W ^a   Zewald, R A ^a   Kamping, E J ^a   de Haas, G ^a   Mager, J J ^b   Snijder, R J ^b   Lindhout, D ^a   Hennekam, F A M ^a   Westermann, C J J ^b   Ploos van Amstel, J K ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b ST ANTONIUS HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR 1; ENDOGLIN;

ARTICLE; CONTROLLED STUDY; FAMILY STUDY; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR GENETICS; MULTIGENE FAMILY; MUTATIONAL ANALYSIS; NETHERLANDS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE; SEQUENCE ANALYSIS;

ACTIVIN RECEPTORS, TYPE I; ACTIVIN RECEPTORS, TYPE II; AMINO ACID SEQUENCE; ANTIGENS, CD; DNA MUTATIONAL ANALYSIS; HUMANS; MOLECULAR SEQUENCE DATA; NETHERLANDS; RECEPTORS, CELL SURFACE; SEQUENCE ALIGNMENT; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; VASCULAR CELL ADHESION MOLECULE-1;

EID: 19944426783     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-004-1196-5     Document Type: Article

References (32)

1. Abdalla SA, Cymerman U, Johnson RM, Deber CM, Letarte M (2003) Disease-associated mutations in conserved residues of ALK-1 kinase domain. Eur J Hum Genet 11:279-287 10.1038/sj.ejhg.5200919 1:CAS:528:DC%2BD3sXivFGktbk%3D 12700602
2. Berg JN, Guttmacher AE, Marchuk DA, Porteous ME (1996) Clinical heterogeneity in hereditary haemorrhagic telangiectasia: Are pulmonary arteriovenous malformations more common in families linked to endoglin? J Med Genet 33:256-257 1:STN:280:BymA2c7mtlM%3D 8728706
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 1:CAS:528:DyaK2sXlsFCrur0%3D 9245985
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 ALK-1 mutations. J Med Genet 40:585-590 10.1136/jmg.40.8.585 1:CAS:528:DC%2BD3sXnslGmtrc%3D 12920067
5. Bergman AJ, van den Berg IE, Brink W, Poll-The BT, Ploos van Amstel JK, Berger R (1998) Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. Hum Mutat 12:19-26 10.1002/(SICI)1098-1004(1998)12:1<19::AID-HUMU3>3.3.CO;2-V 1:CAS:528:DyaK1cXjvVamu7k%3D 9633815
6. Bourdeau A, Cymerman U, Paquet ME, Meschino W, McKinnon WC, Guttmacher AE, Becker L, Letarte M (2000) Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1. Am J Pathol 156:911-923 1:CAS:528:DC%2BD3cXitVeru7k%3D 10702408
7. Buscarini E, Buscarini L, Danesino C, Piantanida M, Civardi G, Quaretti P, Rossi S, Di Stasi M, Silva M (1997) Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: Doppler sonographic screening in a large family. J Hepatol 26:111-118 10.1016/S0168-8278(97)80017-7 1:STN:280:ByiB3cngtlc%3D 9148001
8. Cymerman U, Vera S, Pece-Barbara N, Bourdeau A, White RI Jr, Dunn J, Letarte M (2000) Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. Pediatr Res 47:24-35 1:CAS:528:DC%2BD3cXksVOmug%3D%3D 10625079
9. Cymerman U, Vera S, Karabegovic A, Abdalla S, Letarte M (2003) Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia. Hum Mutat 21:482-492 10.1002/humu.10203 1:CAS:528:DC%2BD3sXjslygtrw%3D 12673790
10. D'Abronzo FH, Swearingen B, Klibanski A, Alexander JM (1999) Mutational analysis of activin/transforming growth factor-beta type I and type II receptor kinases in human pituitary tumors. J Clin Endocrinol Metab 84:1716-1721 10.1210/jc.84.5.1716 1:CAS:528:DyaK1MXjtFCksLs%3D 10323406
11. Gallione CJ, Klaus DJ, Yeh EY, Stenzel TT, Xue Y, Anthony KB, McAllister KA, Baldwin MA, Berg JN, Lux A, Smith JD, Vary CP, Craigen WJ, Westermann CJ, Warner ML, Miller YE, Jackson CE, Guttmacher AE, Marchuk DA (1998) Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. Hum Mutat 11:286-294 10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.3.CO;2-2 1:CAS:528:DyaK1cXisVGmtL4%3D 9554745
12. Gallione CJ, Scheessele EA, Reinhardt D, Duits AJ, Berg JN, Westermann CJ, Marchuk DA (2000) Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect. Hum Genet 107:40-44 10.1007/s004390050008 1:CAS:528:DC%2BD3cXls1Ghsbw%3D 10982033
13. 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). The Lancet 363:852-859 10.1016/S0140-6736(04)15732-2 1:CAS:528:DC%2BD2cXitFKltro%3D
14. Guttmacher AE, Marchuk DA, White RI Jr (1995) Hereditary hemorrhagic telangiectasia. N Engl J Med 333:918-924 10.1056/NEJM199510053331407 1:STN:280:ByqA1MnjsVQ%3D 7666879
15. Haitjema T, Disch F, Overtoom TT, Westermann CJ, Lammers JW (1995) Screening family members of patients with hereditary hemorrhagic telangiectasia. Am J Med 99:519-524 10.1016/S0002-9343(99)80229-0 1:STN:280:BymD28novVE%3D 7485210
16. Haitjema T, Balder W, Disch FJ, Westermann CJ (1996a) Epistaxis in hereditary haemorrhagic telangiectasia. Rhinology 34:176-178 1:STN:280:ByiD1Mzjt1M%3D 8938889
17. Haitjema T, Westermann CJ, Overtoom TT, Timmer R, Disch F, Mauser H, Lammers JW (1996b) Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): New insights in pathogenesis, complications, and treatment. Arch Intern Med 156:714-719
18. Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, Marchuk DA (1996) Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 13:189-195 10.1038/ng0696-189 1:CAS:528:DyaK28XktlOhur4%3D 8640225
19. Kjeldsen AD, Brusgaard K, Poulsen L, Kruse T, Rasmussen K, Green A, Vase P (2001) Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families. Am J Med Genet 98:298-302 10.1002/1096-8628(20010201)98:4<298::AID-AJMG1093>3.0.CO;2-K 1:STN:280:DC%2BD3MzgtV2itA%3D%3D 11170071
20. Lastella P, Sabba C, Lenato GM, Resta N, Lattanzi W, Gallitelli M, Cirulli A, Guanti G (2003) Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia. Clin Genet 63:536-540 10.1034/j.1399-0004.2003.00081.x 1:STN:280:DC%2BD3szhvVelsg%3D%3D 12786761
21. Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Riviere S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S (2004) Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat 23:289-299 10.1002/humu.20017 1:CAS:528:DC%2BD2cXjslGrsrY%3D 15024723
22. Lux A, Gallione CJ, Marchuk DA (2000) Expression analysis of endoglin missense and truncation mutations: Insights into protein structure and disease mechanisms. Hum Mol Genet 9:745-755 10.1093/hmg/9.5.745 1:CAS:528:DC%2BD3cXitlais70%3D 10749981
23. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J et al (1994) Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type1. Nat Genet 8:345-351 10.1038/ng1294-345 1:CAS:528:DyaK2MXitl2hsLo%3D 7894484
24. Olivieri C, Mira E, Delu G, Pagella F, Zambelli A, Malvezzi L, Buscarini E, Danesino C (2002) Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia. J Med Genet 39:E39 10.1136/jmg.39.7.e39 1:STN:280:DC%2BD38zntVWktQ%3D%3D 12114496
25. Pece N, Vera S, Cymerman U, White RI Jr, Wrana JL, Letarte M (1997) Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. J Clin Invest 100:2568-2579 1:CAS:528:DyaK2sXnsVymtbs%3D 9366572
26. Piantanida M, Buscarini E, Dellavecchia C, Minelli A, Rossi A, Buscarini L, Danesino C (1996) Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2. J Med Genet 33:441-443 1:CAS:528:DyaK28XktlCgurs%3D 8782041
27. Shovlin CL, Letarte M (1999) Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: Issues in clinical management and review of pathogenic mechanisms. Thorax 54:714-729 1:STN:280:DyaK1MzktlyltQ%3D%3D 10413726
28. 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 10.1002/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P 1:STN:280:DC%2BD3c3htlWntg%3D%3D 10751092
29. Trembath RC, Thomson JR, Machado RD, Morgan NV, Atkinson C, Winship I, Simonneau G, Galie N, Loyd JE, Humbert M, Nichols WC, Morrell NW, Berg J, Manes A, McGaughran J, Pauciulo M, Wheeler L (2001) Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 345:325-334 10.1056/NEJM200108023450503 1:CAS:528:DC%2BD3MXmtVGqs7Y%3D 11484689
30. Van den Driesche S, Mummery CL, Westermann CJ (2003) Hereditary hemorrhagic telangiectasia: An update on transforming growth factor beta signaling in vasculogenesis and angiogenesis. Cardiovasc Res 58:20-31 10.1016/S0008-6363(02)00852-0 12667943
31. Wallace GM, Shovlin CL (2000) A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1. Thorax 55:685-690 10.1136/thorax.55.8.685 1:STN:280:DC%2BD3czpvFWnsQ%3D%3D 10899246
32. Willemse RB, Mager JJ, Westermann CJ, Overtoom TT, Mauser H, Wolbers JG (2000) Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia. J Neurosurg 92:779-784 1:STN:280:DC%2BD3c3lt1altw%3D%3D 10794291