Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients

Journal of Medical Genetics

Volumn 48, Issue 5, 2011, Pages 358-360

  Hunter Best, D ^a,b   Vaughn, Cecily ^b   McDonald, Jamie ^a   Damjanovich, Kristy ^b   Runo, James R ^a,c   Chibuk, Jason M ^d   Bayrak Toydemir, Pinar ^a,b  

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

^b ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^c UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^d UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SILDENAFIL; UNIPROST;

ADULT; ARTERIOVENOUS MALFORMATION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE MUTATION; GENETIC DISORDER; HUMAN; MOSAICISM; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RENDU OSLER WEBER DISEASE;

ACTIVIN RECEPTORS, TYPE II; ADULT; ANTIGENS, CD; BASE SEQUENCE; EXONS; FEMALE; HUMANS; MIDDLE AGED; MOSAICISM; MUTATION; RECEPTORS, CELL SURFACE; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 79955526703     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.088286     Document Type: Article

References (11)

1. 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. International guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. J Med Genet 2011;48:73-87.
2. 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;140:2155-62.
3. Cole SG, Begbie ME, Wallace GM, Shovlin CL. A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. J Med Genet 2005;42:577-82.
4. 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. Hum Mutat 2006;27:667-75.
5. 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;363:852-9.
6. Gedge F, McDonald J, Phansalkar A, Chou LS, Calderon F, Mao R, Lyon E, Bayrak-Toydemir P. Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. J Mol Diagn 2007;9:258-65.
7. McDonald J, Gedge F, Burdette A, Carlisle J, Bukjiok CJ, Fox M, Bayrak-Toydemir P. Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation. J Mol Diagn 2009;11:569-75.
8. Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius MM, Loff S, Back W, Kaufmann A, Keller KM, Blaas SH, Siebert R, Vogt S, Spranger S, Holinski-Feder E, Sunde L, Propping P, Friedl W. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet 2007;44:702-9.
9. Shovlin CL. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev 2010;24:203-19.
10. Harrison RE, Berger R, Haworth SG, Tulloh R, Mache CJ, Morrell NW, Aldred MA, Trembath RC. Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood. Circulation 2005;111:435-41.
11. 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;345:325-34.