A Japanese Family of Typical Loeys-Dietz Syndrome with a TGFBR2 Mutation

Internal Medicine

Volumn 46, Issue 24, 2007, Pages 1995-2000

  Togashi, Yosuke ^a   Sakoda, Hiroto ^a   Nishimura, Akira ^b   Matsumoto, Naomichi ^b   Hiraoka, Hisatoyo ^a   Matsuzawa, Yuji ^a  

^a SUMITOMO HOSPITAL   (Japan)

^b YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Aortic aneurysm and dissection; Arterial tortuosity; Loeys Dietz syndrome; Marfan syndrome; Transforming growth factor beta receptor

Indexed keywords

PROTEIN SERINE THREONINE KINASE; TRANSFORMING GROWTH FACTOR BETA RECEPTOR; TRANSFORMING GROWTH FACTOR BETA TYPE II RECEPTOR; TRANSFORMING GROWTH FACTOR-BETA TYPE II RECEPTOR; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CLASSIFICATION; CONGENITAL BLOOD VESSEL MALFORMATION; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; GENETICS; HUMAN; HYPERTELORISM; MALE; MARFAN SYNDROME; MIDDLE AGED; MISSENSE MUTATION; PALATE; PEDIGREE; SYNDROME;

ADULT; CRANIOFACIAL ABNORMALITIES; DIAGNOSIS, DIFFERENTIAL; HUMANS; HYPERTELORISM; MALE; MARFAN SYNDROME; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SYNDROME; UVULA; VASCULAR MALFORMATIONS;

EID: 38749151951     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.46.0467     Document Type: Article

References (25)

1. Mizuguchi T, Collod-Beroud G, Akiyama T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 36: 855–860, 2004.
2. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37: 275–281, 2005.
3. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 355: 788–798, 2006.
4. Judge DP, Dietz HC. Marfan's syndrome. Lancet 366: 1965–1976, 2005.
5. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62: 417–426, 1996.
6. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352: 337–339, 1991.
7. Loeys B, De Backer J, Van Acker P, et al. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat 24: 140–146, 2004.
8. Sakai H, Visser R, Ikegawa S, et al. Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. Am J Med Genet A 140: 1719–1725, 2006.
9. Pannu H, Fadulu VT, Chang J, et al. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation 112: 513–520, 2005.
10. Akutsu K, Morisaki H, Takeshita S, et al. Phenotypic Heterogeneity of Marfan-Like Connective Tissue Disorders Associated With Mutations in the Transforming Growth Factor-beta Receptor Genes. Circ J 71: 1305–1309, 2007.
11. Judge DP, Biery NJ, Keene DR, et al. Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest 114: 172–181, 2004.
12. Pereira L, Andrikopoulos K, Tian J, et al. Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nat Genet 17: 218–222, 1997.
13. Pereira L, Lee SY, Gayraud B, et al. Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1. Proc Natl Acad Sci USA 96: 3819–3823, 1999.
14. Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312: 117–121, 2006.
15. Jones KB, Myers L, Judge DP, Kirby PA, Dietz HC, Sponseller PD. Toward an understanding of dural ectasia: A light microscopy study in a murine model of Marfan syndrome. Spine 30: 291–293, 2005.
16. Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 33: 407–411, 2003.
17. Ng CM, Cheng A, Myers LA, et al. TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest 114: 1586–1592, 2004.
18. Janssens K, Vanhoenacker F, Bonduelle M, et al. Camurati-Engelmann disease: Review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet 43: 1–11, 2006.
19. Bobik A. Transforming growth factor-betas and vascular disorders. Arterioscler Thromb Vasc Biol 8: 1712–1720, 2006.
20. Finkbohner R, Johnston D, Crawford ES, Coselli J, Milewicz DM. Marfan syndrome. Long-term survival and complications after aortic aneurysm repair. Circulation 91: 728–733, 1995.
21. Silverman DI, Burton KJ, Gray J, et al. Life expectancy in the Marfan syndrome. Am J Cardiol 75: 157–160, 1995.
22. Mizuguchi T, Matsumoto N. Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet 52: 1–12, 2007.
23. Yetman AT, Beroukhim RS, Ivy DD, et al. Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period. Pediatrics 119: 1199–1202, 2007.
24. LeMaire SA, Pannu H, Tran-Fadulu V, et al. Severe aortic and arterial aneurysms associated with a TGFBR2 mutation. Nat Clin Pract Cardiovasc Med 4: 167–171, 2007.
25. Williams JA, Loeys BL, Nwakanma LU, et al. Early surgical experience with Loeys-Dietz: A new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg 83: S757–S763, 2007.