Dural ectasia in Loeys-Dietz syndrome: Comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation

Clinical Genetics

Volumn 86, Issue 6, 2014, Pages 545-551

  Sheikhzadeh, S ^a   Brockstaedt, L ^a   Habermann, C R ^b   Sondermann, C ^a   Bannas, P ^a   Mir, T S ^a   Staebler, A ^c   Seidel, H ^d   Keyser, B ^e   Arslan Kirchner, M ^e   Kutsche, K ^a   Berger, J ^a   Blankenberg, S ^a   von Kodolitsch, Y ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b Catholic Marienkrankenhaus Hamburg ^*  (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^e HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

Dural ectasia; Loeys Dietz syndrome; Marfan syndrome; TGFBR1; TGFBR2

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; PROTEIN SERINE THREONINE KINASE; TGF-BETA TYPE I RECEPTOR; TRANSFORMING GROWTH FACTOR BETA RECEPTOR; TRANSFORMING GROWTH FACTOR-BETA TYPE II RECEPTOR;

ADULT; ARTICLE; BODY HEIGHT; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; DATA BASE; DISEASE ASSOCIATION; DISEASE SEVERITY; DURAL ECTASIA; FEMALE; GENE MUTATION; GERMANY; HUMAN; LOEYS DIETZ SYNDROME; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; PRIORITY JOURNAL; ADOLESCENT; AGED; CASE CONTROL STUDY; CHILD; GENETICS; LESIONS AND DEFECTS; MIDDLE AGED; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; BODY HEIGHT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DILATATION, PATHOLOGIC; FEMALE; HUMANS; LOEYS-DIETZ SYNDROME; MAGNETIC RESONANCE IMAGING; MALE; MARFAN SYNDROME; MIDDLE AGED; MUTATION; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; YOUNG ADULT;

EID: 84937511393     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12308     Document Type: Article

References (17)

1. Fattori R, Nienaber CA, Descovich B et al. Importance of dural ectasia in phenotypic assessment of Marfan's syndrome. Lancet 1999: 354: 910-913.
2. Ahn NU, Sponseller PD, Ahn UM et al. Dural ectasia in the Marfan syndrome: MR and CT findings and criteria. Genet Med 2000: 2: 173-179.
3. Oosterhof T, Groenink M, Hulsmans FJ et al. Quantitative assessment of dural ectasia as a marker for Marfan syndrome. Radiology 2001: 220: 514-518.
4. Habermann CR, Weiss F, Schoder V et al. MR evaluation of dural ectasia in Marfan syndrome: reassessment of the established criteria in children, adolescents, and young adults. Radiology 2005: 234: 535-541.
5. Lundby R, Rand-Hendriksen S, Hald JK et al. Dural ectasia in Marfan syndrome: a case control study. AJNR Am J Neuroradiol 2009: 30: 1534-1540.
6. Sheikhzadeh S, Sondermann C, Rybczynski M et al. Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation. Clinic Genet 2013.
7. Kono AK, Higashi M, Morisaki H et al. Prevalence of dural ectasia in Loeys-Dietz syndrome: comparison with Marfan syndrome and normal controls. PLoS One 2013: 8: e75264.
8. Singh KK, Rommel K, Mishra A et al. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat 2006: 27: 770-777.
9. De Paepe A, Devereux RB, Dietz HC et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996: 62: 417-426.
10. Loeys BL, Dietz HC, Braverman AC et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010: 47: 476-485.
11. 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 2005: 37: 275-281.
12. Loeys BL, Schwarze U, Holm T et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006: 355: 788-798.
13. Orphanet. Loeys-Dietz syndrome type 1. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=60030. 2006.
14. Erkula G, Sponseller PD, Paulsen LC et al. Musculoskeletal findings of Loeys-Dietz syndrome. J Bone Joint Surg Am 2010: 92: 1876-1883.
15. Rodrigues VJ, Elsayed S, Loeys BL et al. Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. AJNR Am J Neuroradiol 2009: 30: 1614-1619.
16. Sheikhzadeh S, Rybczynski M, Habermann CR et al. Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2. Clin Genet 2011: 79: 568-574.
17. Rommel K, Karck M, Haverich A et al. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. Hum Mutat 2005: 26: 529-539.