Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations

Journal of Molecular Diagnostics

Volumn 9, Issue 2, 2007, Pages 258-265

  Gedge, Friederike ^a   McDonald, Jamie ^a,b   Phansalkar, Amit ^a   Chou, Lan Szu ^a   Calderon, Fernanda ^a   Mao, Rong ^a,b   Lyon, Elaine ^a,b   Bayrak Toydemir, Pinar ^a,b  

^a ARUP LABORATORIES   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; ENDOGLIN; PROTEIN TYROSINE KINASE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CAPILLARY ELECTROPHORESIS; CONTROLLED STUDY; DIAGNOSTIC TEST; FAMILY STUDY; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; RENDU OSLER WEBER DISEASE; SENSITIVITY ANALYSIS; SEQUENCE ANALYSIS; SYMPTOM; EXON; GENETICS; INTRON; METHODOLOGY; MUTATION; SENSITIVITY AND SPECIFICITY;

DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, CAPILLARY; EXONS; GENETIC SCREENING; HUMANS; INTRONS; MUTATION; POLYMORPHISM, GENETIC; SENSITIVITY AND SPECIFICITY; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 34247869921     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2007.060117     Document Type: Article

References (30)

1. 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
2. Bayrak-Toydemir P, Markewitz B, Lewin S, Miller F, Chou L, Gedge F, Tang W, Coon H, Mao R: Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Am J Med Genet A 2006, 140:463-470
3. Fulbright RK, Chaloupka JC, Putman CM, Sze GK, Merriam MM, Lee GK, Fayad PB, Awad IA, White Jr RI: MR of hereditary hemorrhagic telangiectasia: prevalence and spectrum of cerebrovascular malformations. Am J Neuroradiol 1998, 19:477-484
4. Morgan T, McDonald J, Anderson C, Ismail M, Miller F, Mao R, Madan A, Barnes P, Hudgins L, Manning M: Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Pediatrics 2002, 109:E12-E18
5. Moussouttas M, Fayad P, Rosenblatt M, Hashimoto M, Pollak J, Henderson K, Ma TY, White RI: Pulmonary arteriovenous malformations: cerebral ischemia and neurologic manifestations. Neurology 2000, 55:959-964
6. Chou LS, Gedge F, Lyon E: Complete gene scanning by temperature gradient capillary electrophoresis using the cystic fibrosis transmembrane conductance regulator gene as a model. J Mol Diagn 2005, 7:111-120
7. Bossier 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. Hum Mutat 2006, 27:667-675
8. 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: Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat 2004, 23:289-299
9. 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. Cole SG, Begbie ME, Wallace GM, Shovlin CL: A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. J Med Genet 2005, 42:577-582
11. 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 A 2006, 140:2155-2162
12. Gallione CJ, Richards JA, Letteboer TG, Rushlow D, Prigoda NL, Leedom TP, Ganguly A, Castells A, Ploos van Amstel JK, Westermann CJ, Pyeritz RE, Marchuk DA: SMAD4 mutations found in unselected HHT patients. J Med Genet 2006, 43:793-797
13. Bayrak-Toydemir P, Mao R, Lewin S, McDonald J: Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians. Genet Med 2004, 6:175-191
14. Ng PC, Henikoff S: Accounting for human polymorphisms predicted to affect protein function. Genome Res 2002, 12:436-446
15. 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: Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 2001, 345:325-334
16. Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, Lindhout D, Hennekam FA, Westermann CJ, Ploos van Amstel JK: Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. Hum Genet 2005, 116:8-16
17. Abdalla SA, Pece-Barbara N, Vera S, Tapia E, Paez E, Bernabeu C, Letarte M: Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. Hum Mol Genet 2000, 9:1227-1237
18. Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE, Jackson CE, Porteous ME, Marchuk DA: The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. Am J Hum Genet 1997, 61:60-67
19. Abdalla SA, Geisthoff UW, Bonneau D, Plauchu H, McDonald J, Kennedy S, Faughnan ME, Letarte M: Visceral manifestations in hereditary haemorrhagic telangiectasia type 2. J Med Genet 2003, 40:494-502
20. 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: Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996, 13:189-195
21. Cymerman U, Vera S, Pece-Barbara N, Bourdeau A, White Jr RI, Dunn J, Letarte M: Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. Pediatr Res 2000, 47:24-35
22. Gallione CJ, Klaus DJ, Yeh EY, Stenzel TT, Xue Y, Anthony KB, McAIlister 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: Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. Hum Mutat 1998, 11:286-294
23. Pece-Barbara N, Cymerman U, Vera S, Marchuk DA, Letarte M: Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. Hum Mol Genet 1999, 8:2171-2181
24. Shovlin CL, Hughes JM, Scott J, Seidman CE, Seidman JG: Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. Am J Hum Genet 1997, 61:68-79
25. Abdalla SA, Cymerman U, Rushlow D, Chen N, Stoeber GP, Lemire EG, Letarte M: Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia. Hum Mutat 2005, 25:320-321
26. Lesca G, Burnichon N, Raux G, Tosi M, Pinson S, Marion MJ, Babin E, Gilbert-Dussardier B, Riviere S, Goizet C, Faivre L, Plauchu H, Frebourg T, Calender A, Giraud S: Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. Hum Mutat 2006, 27:598-611
27. Cymerman U, Vera S, Karabegovic A, Abdalla S, Letarte M: Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia. Hum Mutat 2003, 21:482-492
28. Plauchu H, de Chadarevian JP, Bideau A, Robert JM: Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989, 32:291-297
29. Porteous ME, Burn J, Proctor SJ: Hereditary haemorrhagic telangiectasia: a clinical analysis. J Med Genet 1992, 29:527-530
30. Kuehl HK, Caselitz M, Hasenkamp S, Wagner S, El-Harith el HA, Manns MP, Stuhrmann M: Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations. Hum Mutat 2005, 25:320-327