Germline TGF-β receptor mutations and skeletal fragility: A report on two patients with Loeys-Dietz syndrome

American Journal of Medical Genetics, Part A

Volumn 152, Issue 4, 2010, Pages 1016-1019

  Kirmani, Salman ^a   Tebben, Peter J ^a   Lteif, Aida N ^a   Gordon, David ^b   Clarke, Bart L ^a   Hefferan, Theresa E ^a   Yaszemski, Michael J ^a   McGrann, Pamela S ^a   Lindor, Noralane M ^a   Ellison, Jay W ^a  

^a MAYO CLINIC   (United States)

^b St Mary's Children's Hospital   (United States)

Author keywords

Aortic aneurysm; Bisphosphonates; Bone density; Bone histomorphometry; Fractures; Vascular fragility

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA RECEPTOR;

ADOLESCENT; ADULT; ANEURYSM; AORTA ANEURYSM; ARTICLE; BONE DENSITY; BONE FRAGILITY; BONE MALFORMATION; CASE REPORT; CRANIOFACIAL MALFORMATION; DIAPHRAGM HERNIA; EARLY DIAGNOSIS; EHLERS DANLOS SYNDROME; EXON; FRAGILITY FRACTURE; GENE MUTATION; HETEROZYGOSITY; HUMAN; INGUINAL HERNIA; LOEYS DIETZ SYNDROME; MALE; MARFAN SYNDROME; OSTEOPENIA; OSTEOPOROSIS; PES EQUINOVARUS; PRIORITY JOURNAL; SYNDROME;

ADOLESCENT; ADULT; BIOPSY; BONE AND BONES; CHILD; CHILD, PRESCHOOL; GERM-LINE MUTATION; HUMANS; INFANT, NEWBORN; LOEYS-DIETZ SYNDROME; MALE; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA;

EID: 77950401077     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33356     Document Type: Article

References (12)

1. Balooch G, Balooch M, Nalla R, Schilling S, Filvaroff E, Marshall G, Marshall S, Ritchie R, Derynck R, Alliston T. 2005. TGF-beta regulates the mechanical properties and composition of bone matrix. Proc Natl Acad Sci USA 102:18813-18818. (Pubitemid 43049527)
2. Borton A, Frederick J, Ditto M, Wang X, Weinstein R. 2001. The loss of Smad3 results in a lower rate of bone formation and osteopenia through dysregulation of osteoblast differentiation and apoptosis. J Bone Miner Res 16:1754-1764. (Pubitemid 32911480)
3. Carter N, Duncan E, Wordsworth P. 2000. Bone mineral density in adults with marfan syndrome. Baillieres Clin Rheumatol 39:307-309. (Pubitemid 30204216)
4. Geiser A, Zeng Q, Sato M, Helvering L, Hirano T, Turner C. 1998. Decreased bone mass and bone elasticity in mice lacking the transforming growth factor-beta1 gene. Bone 23:87-93. (Pubitemid 28379868)
5. Janssens K, Gershoni-Baruch R, Guañabens N, Migone N, Ralston S, Bonduelle M, Lissens W, Van Maldergem L, Vanhoenacker F, Verbruggen L, Van Hul W. 2000. Mutations in the gene encoding the latency-associated peptide of Tgf-beta 1 cause Camurati-Engelmann disease. Nat Genet 26:273-275.
6. Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray J, Taniguchi N, Niikawa N, Yoshiura K. 2000. Domain-specific mutations in Tgfb1 result in Camurati-Engelmann disease. Nat Genet 26:19-20.
7. Le Parc J, Plantin P, Jondeau G, Goldschild M, Albert M, Boileau C. 1999. Bone mineral density in sixty adult patients with Marfan syndrome. Osteoporos Int 10:475-479. (Pubitemid 30029014)
8. Loeys B, Chen J, Neptune E, Judge D, Podowski M, Holm T, Meyers J, Leitch C, Katsanis N, Sharifi N, Xu F, Myers L, Spevak P, Cameron D, De Backer J, Hellemans J, Chen Y, Davis E, Webb C, Kress W, Coucke P, Rifkin D, De Paepe A, Dietz H. 2005. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in Tgfbr1 or Tgfbr2. Nat Genet 37: 275-281. (Pubitemid 41716254)
9. Loeys B, Schwarze U, Holm T, Callewaert B, Thomas G, Pannu H, De Backer J, Oswald G, Symoens S, Manouvrier S, Roberts A, Faravelli F, Greco M, Pyeritz R, Milewicz D, Coucke P, Cameron D, Braverman A, Byers P, De Paepe A, Dietz H. 2006. Aneurysm syndromes caused by mutations in the Tgf-beta receptor. N Engl J Med 355:788-798. (Pubitemid 44285584)
10. Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N. 2004. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 36:855-860. (Pubitemid 39014103)
11. Moura B, Tubach F, Sulpice M, Boileau C, Jondeau G, Muti C, Chevallier B, Ounnoughene Y, Le Parc J. Group Mmsc. 2006. Bone mineral density in Marfan syndrome. A large case-control study. Joint Bone Spine 73: 733-735.
12. Neptune E, Frischmeyer P, Arking D, Myers L, Bunton T, Gayraud B, Ramirez F, Sakai L, Dietz H. 2003. Dysregulation of Tgf-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 33:407-411. (Pubitemid 36278859)