Clinical diagnostics of fibrillinopathies (type 1)
https://doi.org/10.15829/1560-4071-2013-2-89-93
Abstract
Diagnostic criteria are presented for the syndromes related to mutations of fibrillin gene type 1 (such as Marfan syndrome, ectopia lentis, MASS phenotype, mitral valve prolapse syndrome, stiff skin syndrome, Shprintzen-Goldberg syndrome) and for the acromelic group of dysplasias (such as geleophysic dysplasia, Weill-Marchesani syndrome, and acromicria).
References
1. Kadurina T. I., Gorbunova V. N. Connective tissue dysplasia. Guide for physicians. SPb.: ELBI SPb; 2009. Russian (КадуринаТ. И., ГорбуноваВ. Н. Дисплазиясоединительной ткани. Руководстводляврачей. СПб.: ЭЛБИСПб, 2009).
2. Kielty C. M., Sherratt M. J., Marson A., et al. Fibrillinmicrofibrils. Adv Protein Chem. 2005; 70:405–36.
3. Bowers S. L., Banerjee I., Baudino T. A. The extracellular matrix: at the center of it all. J Mol Cell Cardiol 2010; 48 (3):474–82.
4. Corson G. M., Charbonneau N. L., Keene D. R., et al. Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues. Genomics 2004; 3 (83):461–72.
5. Zhang H., Apfelroth S. D., Hu W., et al. Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. J Cell Biol 1994; 124:855–63.
6. Dietz H. C., Pyeritz R. E. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 1995; 4 (spec no):1799–809.
7. Dietz H. C., Loeys B., Carta L., et al. Recent progress towards a molecular understanding of Marfan syndrome. Am J Med Genet 2005; 139:4–9.
8. Faivre L., Collod-Beroud G., Callewaert B., et al. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. Am J Med Genet 2009; 149A (5):854–60.
9. Halliday D. J., Hutchinson S., Lonie L., et al. Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. J Med Genet 2002; 39:589–93.
10. Loeys B. L., Dietz H. C., Braverman A. C. et al. The revised Ghent nosology for the Marfan syndrome J Med Genet 2010; 47:476–85.
11. Inherited Connective Tissue Disorders in Cardiology. Diagnostic and Treatment. Russ J Cardiol 2013; 1 (99), Suppl. 1. Russian (Наследственные нарушения соединительной ткани в кардиологии. Диагностика и лечение. Российский кардиологический журнал
12. ; 1 (99), приложение 1).
13. Ades L. C., HolmanK. J., Brett M. S. et al. Ectopialentis phenotypes and the FBN1 gene. Am J Med Genet 2004; 126A:284–9.
14. Robinson P. N., Godfrey M. The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet 2000; 37:9–25.
15. Zemtsovsky E. V., Malev E. G. Minor abnormalities of the heart and dysplastic phenotypes. SPb.: Publishing House “IFEREL”, 2012. Russian (Земцовский Э. В., Малев Э. Г. Малые аномалии cердца и диспластические фенотипы. СПб.: Изд-во «ИВЭСЭП», 2012).
16. Liu T., McCalmonet T. H., Frieden I. J. et al. The stiff skin syndrome: Case series, differential diagnosis of the stiff skin phenotype, and review of the literature. Arch Dermatol 2008; 144:1351.
17. Jablonska S., Blaszczyk M. Scleroderma-like indurations involving fascias: an abortive form of congenital fascial dystrophy (stiff skin syndrome). PediatrDermatol 2000; 17 (2):105–10.
18. Ad s L. C., Sullivan K., Biggin A., et al. FBN1, TGFBR1, and the Marfancraniosynostosis/mental retardation disorders revisited. Am J Med Genet 2006; 140:1047–58.
19. Kosaki K., Takahashi D., Udaka T., et al. Molecular pathology of Shprintzen-Goldberg syndrome. Am J Med Genet 2006; 140:104–8.
20. Loeys B. L., Gerber E. E., Riegert-Johnson D., et al. Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. SciTransl Med 2010; 2:20–3.
21. Le Goff C., Cormier-Daire V. Genetic and molecular aspects of acromelic dysplasia. PediatrEndocrinol 2009; Rev 6:418–23.
22. Le Goff C., Mahaut C., Wang L. W. Mutations in the TGF
23. Scott A., Yeung S., Dickinson D., et al. Natural history of cardiac involvement in geleophysic dysplasia. Am J Med Genet 2005; 132A (3):320–3.
24. Giray O., K r M., Bora E., et al. Clinical and morphological phenotype of geleophysic
25. dysplasia. Annals of Tropical Paediatrics: International Child Health 2008; 2 (28):161–4.
26. Dagoneau N., Benoist-Lasselin C., Huber C. et al. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet 2004; 75:801–6.
27. Dal D., Sahin A., Aypar U. Anesthetic management of a patient with Weill–Marchesani syndrome. ActaAnaesthesiolScand 2003; 47:369–70.
28. van de Woestijnea P. C., HarkelbA. Derk-J. T., Bogersa Ad J. J. C. Two patients with Weill–Marchesani syndrome and mitral stenosis. Interact CardioVascThoracSurg 2004; 3 (3):484–5.
29. Faivre L., Le Merrer M., Baumann C., et al. Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. J Med Genet 2001; 38:745–9.
30. Chang B. M., Liebmann J. M. et al. Angle closure in younger patients. Trans Am OphthalmolSoc 2002; 100:201–12.
Review
For citations:
Trisvetova E.L. Clinical diagnostics of fibrillinopathies (type 1). Russian Journal of Cardiology. 2013;(2):89-93. (In Russ.) https://doi.org/10.15829/1560-4071-2013-2-89-93
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