Copy number variations in endoglin locus: Mapping of large deletions in spanish families with hereditary hemorrhagic telangiectasia type 1

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Fontalba, Ana ^a   Fernández Luna, Jose L ^a   Zarrabeitia, Roberto ^b   Recio Poveda, Lucia ^c   Albiñana, Virginia ^c   Ojeda Fernández, Maria L ^c   Bernabéu, Carmelo ^c   Alcaraz, Luis A ^d   Botella, Luisa M ^c  

^a HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^b HOSPITAL SIERRALLANA   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^d Bioarray   (Spain)

Author keywords

Alu repetitive sequences; Copy number variation (CNV) arrays; Endoglin deletions; Hereditary hemorrhagic telangiectasia (HHT); Multiplex ligation PCR assisted assay (MLPA)

Indexed keywords

ENDOGLIN; CELL SURFACE RECEPTOR; CYCLIN DEPENDENT KINASE 9; ENG PROTEIN, HUMAN; LEUKOCYTE ANTIGEN;

ADULT; ARTICLE; CHILD; CHROMOSOME BREAKAGE; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; FAMILY; GENE DELETION; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; PROMOTER REGION; RENDU OSLER WEBER DISEASE; SPAIN; CAUCASIAN; CHROMOSOME MAP; GENETIC ASSOCIATION; GENETICS; GENOTYPE; MULTIPLEX POLYMERASE CHAIN REACTION; PATHOLOGY; PHENOTYPE;

ANTIGENS, CD; CHROMOSOME MAPPING; CYCLIN-DEPENDENT KINASE 9; DNA COPY NUMBER VARIATIONS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; GENE DELETION; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; GENOTYPE; HUMANS; MULTIPLEX POLYMERASE CHAIN REACTION; PHENOTYPE; PROMOTER REGIONS, GENETIC; RECEPTORS, CELL SURFACE; SPAIN; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 84888092302     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-121     Document Type: Article

References (32)

1. Guttmacher AE, Marchuk DA, White RI. Hereditary hemorrhagic telangiectasia. N Engl J Med 1995, 333:918-924. 10.1056/NEJM199510053331407, 7666879.
2. 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, 91:66-67. 10.1002/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P, 10751092.
3. Shovlin CL. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev 2010, 2:203-219.
4. 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 Mut 2002, 19:140-148. 10.1002/humu.10026, 11793473.
5. Zarrabeitia R, Albiñana V, Salcedo M, Señaris-Gonzalez B, Fernandez-Forcelledo JL, Botella LM. A review on clinical management and pharmacological therapy on hereditary haemorrhagic telangiectasia (HHT). Curr Vasc Pharmacol 2010, 8:473-481. 10.2174/157016110791330771, 19485912.
6. Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet 2009, 17:860-871. 10.1038/ejhg.2009.35, 2986493, 19337313.
7. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, et al. ENG, 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.
8. 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.
9. Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan ME, et al. Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet A 2010, 152:333-339.
10. Fernandez-L A, Sanz-Rodriguez F, Zarrabeitia R, Perez-Molino A, Morales C, Restrepo CM, Ramirez JR, Coto E, Lenato GM, Bernabeu C, Botella LM. Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of ENG and ALK1. Hum Mutat 2006b, 27:295.
11. Cole SG, Begbie ME, Wallace GMF, Shovlin CL. A new locus for hereditary haemorrhagic telangiactasia (HHT3) maps to chromosome 5. J Med Genet 2005, 42:577-582. 10.1136/jmg.2004.028712, 1736109, 15994879.
12. 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. Am J Med Genet 2006, 140:2155-2162.
13. Santibañez JF, Quintanilla M, Bernabeu C. TGF-β/TGF-β receptor system and its role in physiological and pathological conditions. Clin Sci (Lond) 2011, 121:233-251. 10.1042/CS20110086, 21615335.
14. ten Dijke P, Arthur H. Extracellular control of TGFbeta signalling in vascular development and disease. Nat Rev Mol Cell Biol 2007, 8:857-869.
15. Goumans MJ, Valdimarsdottir G, Itoh S, Rosendahl A, Sideras P, ten Dijke P. Balancing the activation state of the endothelium via two distinct TGF-beta type I receptors. EMBO J 2002, 21:1743-1753. 10.1093/emboj/21.7.1743, 125949, 11927558.
16. Lebrin F, Goumans MJ, Jonker L, Carvalho RL, Valdimarsdottir G, Thorikay M, Mummery C, Arthur HM, ten Dijke P. Endoglin promotes endothelial cell proliferation and TGF-beta/ALK1 signal transduction. EMBO J 2004, 23:4018-4028. 10.1038/sj.emboj.7600386, 524335, 15385967.
17. Blanco FJ, Santibanez JF, Guerrro-Esteo M, Langa C, Vary CP, Bernabeu C. Interactions and functional interplay between Endoglin and ALK-1, two components of the endothelial transforming growth factor-beta receptor complex. J Cell Physiol 2005, 204:574-584. 10.1002/jcp.20311, 15702480.
18. Fernández-L A, Sanz-Rodriguez F, Blanco FJ, Bernabéu C, Botella LM. Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway. Clin Med Res 2006a, 4:66-78.
19. Pardali E, Goumans MJ, Ten Dijke P. Signaling by members of the TGF-beta family in vascular morphogenesis and disease. Trends Cell Biol 2010, 20:556-567. 10.1016/j.tcb.2010.06.006, 20656490.
20. Damjanovich K, Langa C, Blanco FJ, McDonald J, Botella LM, Bernabeu C, Wooderchak-Donahue W, Stevenson DA, Bayrak-Toydemir P. 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis 2011, 6:85. 10.1186/1750-1172-6-85, 3277489, 22192717.
21. Kim MJ, Kim ST, Lee HD, Lee KY, Seo J, Lee JB, Lee YJ, Oh SP. Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia. BMC Med Genet 2011, 12:130. 10.1186/1471-2350-12-130, 3202234, 21967607.
22. Fontalba A, Fernandez-L A, García-Alegria E, Albiñana V, Garrido-Martin EM, Blanco FJ, Zarrabeitia R, Perez-Molino A, Bernabeu-Herrero ME, Ojeda ML, Fernandez-Luna JL, Bernabeu C, Botella LM. Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia. BMC Med Genet 2008, 9:75. 10.1186/1471-2350-9-75, 2518546, 18673552.
23. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002, 30:e57. 10.1093/nar/gnf056, 117299, 12060695.
24. Ríus C, Smith JD, Almendro N, Langa C, Botella LM, Marchuk DA, Vary CP, Bernabéu C. Cloning of the promoter region of human endoglin, the target gene for hereditary hemorrhagic telangiectasia type 1. Blood. 1998, 92:4677-4690.
25. Richards-Yutz J, Grant K, Chao EC, Walther SE, Ganguly A. Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Hum Genet 2010, 128:61-77. 10.1007/s00439-010-0825-4, 20414677.
26. Prigoda NL, Savas S, Abdalla SA, Piovesan B, Rushlow D, Vandezande K, Zhang E, Ozcelik H, Gallie BL, Letarte M. Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations. J Med Genet 2006, 43:722-728. 10.1136/jmg.2006.042606, 2564570, 16690726.
27. Botella LM, Sánchez-Elsner T, Rius C, Corbí A, Bernabéu C. Identification of a critical Sp1 site within the endoglin promoter and its involvement in the transforming growth factor-beta stimulation. J Biol Chem 2001, 14:34486-34494.
28. Botella LM, Sánchez-Elsner T, Sanz-Rodriguez F, Kojima S, Shimada J, Guerrero-Esteo M, Cooreman MP, Ratziu V, Langa C, Vary CP, Ramirez JR, Friedman S, Bernabéu C. Transcriptional activation of endoglin and transforming growth factor-beta signaling components by cooperative interaction between Sp1 and KLF6: their potential role in the response to vascular injury. Blood 2002, 100:4001-4010. 10.1182/blood.V100.12.4001, 12433697.
29. Sánchez-Elsner T, Botella LM, Velasco B, Langa C, Bernabéu C. Endoglin expression is regulated by transcriptional cooperation between the hypoxia and transforming growth factor-beta pathways. J Biol Chem 2002, 277:43799-43808. 10.1074/jbc.M207160200, 12228247.
30. Wooderchak W, Gedge F, McDonald M, Krautscheid P, Wang X, Malkiewicz J, Bukjiok CJ, Lewis T, Bayrak-Toydemir P. Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family. Clinical Genetics 2010, 78:484-489. 10.1111/j.1399-0004.2010.01418.x, 20412114.
31. Deininger PL, Batzer MA. Alu repeats and human disease. Mol Genet Metab 1999, 67:183-193. 10.1006/mgme.1999.2864, 10381326.
32. Sen SK, Han K, Wang J, Lee J, Wang H, Callinan PA, Dyer M, Cordaux R, Liang P, Batzer MA. Human genomic deletions mediated by recombination between Alu elements. Am J Human Genet 2006, 79:41-53.