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Information and medical research site about Dyskeratosis Congenita
Bibliographie :

1.             Zinsser, F., Atropha cutis reticularis cum pigmentatione, dystrophia ungiumet leukoplakia oris. Ikonogr Dermatol, 1906. 5: p. 219-223.

2.             Knight, S., et al., Dyskeratosis Congenita (DC) Registry: identification of new features of DC. Br J Haematol, 1998. 103(4): p. 990-6.

3.             Dokal, I., Dyskeratosis congenita in all its forms. Br J Haematol, 2000. 110(4): p. 768-79.

4.             Dokal, I., Fanconi's anaemia and related bone marrow failure syndromes. Br Med Bull, 2006. 77-78: p. 37-53.

5.             Mason, P.J., Stem cells, telomerase and dyskeratosis congenita. Bioessays, 2003. 25(2): p. 126-33.

6.             Mason, P.J., D.B. Wilson, and M. Bessler, Dyskeratosis congenita -- a disease of dysfunctional telomere maintenance. Curr Mol Med, 2005. 5(2): p. 159-70.

7.             Dokal, I. and T. Vulliamy, Dyskeratosis congenita: its link to telomerase and aplastic anaemia. Blood Rev, 2003. 17(4): p. 217-25.

8.             Hoyeraal, H.M., J. Lamvik, and P.J. Moe, Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers. Acta Paediatr Scand, 1970. 59(2): p. 185-91.

9.             Fogarty, P.F., et al., Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. Lancet, 2003. 362(9396): p. 1628-30.

10.          Vulliamy, T., et al., Association between aplastic anaemia and mutations in telomerase RNA. Lancet, 2002. 359(9324): p. 2168-70.

11.          Vulliamy, T.J., et al., Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis, 2005. 34(3): p. 257-63.

12.          Yamaguchi, H., et al., Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood, 2003. 102(3): p. 916-8.

13.          Yamaguchi, H., et al., Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med, 2005. 352(14): p. 1413-24.

14.          Armanios, M.Y., et al., Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med, 2007. 356(13): p. 1317-26.

15.          Dokal, I., et al., Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements. Blood, 1992. 80(12): p. 3090-6.

16.          Vulliamy, T.J., et al., Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells Mol Dis, 2001. 27(2): p. 353-7.

17.          Drachtman, R.A. and B.P. Alter, Dyskeratosis congenita: clinical and genetic heterogeneity. Report of a new case and review of the literature. Am J Pediatr Hematol Oncol, 1992. 14(4): p. 297-304.

18.          Connor, J.M., et al., Assignment of the gene for dyskeratosis congenita to Xq28. Hum Genet, 1986. 72(4): p. 348-51.

19.          Heiss, N.S., et al., X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet, 1998. 19(1): p. 32-8.

20.          Vulliamy, T.J., et al., Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood, 2006. 107(7): p. 2680-5.

21.          Davis, D.R., Stabilization of RNA stacking by pseudouridine. Nucleic Acids Res, 1995. 23(24): p. 5020-6.

22.          Meroueh, M., et al., Unique structural and stabilizing roles for the individual pseudouridine residues in the 1920 region of Escherichia coli 23S rRNA. Nucleic Acids Res, 2000. 28(10): p. 2075-83.

23.          Henras, A., et al., Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs. Embo J, 1998. 17(23): p. 7078-90.

24.          Reichow, S.L., et al., The structure and function of small nucleolar ribonucleoproteins. Nucleic Acids Res, 2007. 35(5): p. 1452-64.

25.          Meier, U.T., The many facets of H/ACA ribonucleoproteins. Chromosoma, 2005. 114(1): p. 1-14.

26.          Henras, A.K., C. Dez, and Y. Henry, RNA structure and function in C/D and H/ACA s(no)RNPs. Curr Opin Struct Biol, 2004. 14(3): p. 335-43.

27.          Valadkhan, S., snRNAs as the catalysts of pre-mRNA splicing. Curr Opin Chem Biol, 2005. 9(6): p. 603-8.

28.          Donmez, G., K. Hartmuth, and R. Luhrmann, Modified nucleotides at the 5' end of human U2 snRNA are required for spliceosomal E-complex formation. Rna, 2004. 10(12): p. 1925-33.

29.          Chen, J.L., M.A. Blasco, and C.W. Greider, Secondary structure of vertebrate telomerase RNA. Cell, 2000. 100(5): p. 503-14.

30.          Mitchell, J.R., J. Cheng, and K. Collins, A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end. Mol Cell Biol, 1999. 19(1): p. 567-76.

31.          Mitchell, J.R., E. Wood, and K. Collins, A telomerase component is defective in the human disease dyskeratosis congenita. Nature, 1999. 402(6761): p. 551-5.

32.          Autexier, C. and N.F. Lue, The Structure and Function of Telomerase Reverse Transcriptase. Annu Rev Biochem, 2006.

33.          Moon, I.K. and M.B. Jarstfer, The human telomere and its relationship to human disease, therapy, and tissue engineering. Front Biosci, 2007. 12: p. 4595-620.

34.          Masutomi, K., et al., Telomerase maintains telomere structure in normal human cells. Cell, 2003. 114(2): p. 241-53.

35.          Pogacic, V., F. Dragon, and W. Filipowicz, Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. Mol Cell Biol, 2000. 20(23): p. 9028-40.

36.          Li, L. and K. Ye, Crystal structure of an H/ACA box ribonucleoprotein particle. Nature, 2006. 443(7109): p. 302-7.

37.          Normand, C., et al., Analysis of the binding of the N-terminal conserved domain of yeast Cbf5p to a box H/ACA snoRNA. Rna, 2006. 12(10): p. 1868- 82.

38.          Cossu, F., et al., A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal- Hreidarsson syndrome. Br J Haematol, 2002. 119(3): p. 765-8.

39.          Knight, S.W., et al., Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol, 1999. 107(2): p. 335-9.

40.          Sznajer, Y., et al., Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur J Pediatr, 2003. 162(12): p. 863-7.

41.          Vulliamy, T., et al., The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature, 2001. 413(6854): p. 432-5.

42.          Fu, D. and K. Collins, Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs. Mol Cell, 2003. 11(5): p. 1361-72.

43.          Marrone, A., et al., Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. Blood, 2004. 104(13): p. 3936-42
.
44.          Marrone, A., A. Walne, and I. Dokal, Dyskeratosis congenita: telomerase, telomeres and anticipation. Curr Opin Genet Dev, 2005. 15(3): p. 249-57.

45.          Armanios, M., et al., Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A, 2005. 102(44): p. 15960-4.

46.          Walne, A.J., et al., Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet, 2007. 16(13): p. 1619-29.

47.          Yoon, A., et al., Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. Science, 2006. 312(5775): p. 902-6.

48.          Liu, J.M. and S.R. Ellis, Ribosomes and marrow failure: coincidental association or molecular paradigm? Blood, 2006. 107(12): p. 4583-8.
49.          Langston, A.A., et al., Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita. Br J Haematol, 1996. 92(3): p. 758-65.
50.          Rocha, V., et al., Unusual complications after bone marrow transplantation for dyskeratosis congenita. Br J Haematol, 1998. 103(1): p. 243-8.

51.          Yabe, M., et al., Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation. Bone Marrow Transplant, 1997. 19(4): p. 389-92
.
52.          Lau, Y.L., et al., Bone marrow transplant for dyskeratosis congenita. Br J Haematol, 1999. 105(2): p. 571.

53.          Nobili, B., et al., Successful umbilical cord blood transplantation in a child with dyskeratosis congenita after a fludarabine-based reduced-intensity conditioning regimen. Br J Haematol, 2002. 119(2): p. 573-4.

Perspectives


Dyskeratosis congenita remains a too little known disease, difficult to diagnose  and often fatal. To improve support of families and patient care, the following endeavours must be continued and developed :
  
  • Increasing the diffusion of pertinent clinical information concerning this disease among the scientific community and the general public.
  
  • Supporting research, to allow the identification of new  genes (at present, the majority of patients affected by autosomal forms of DC or HH do not display mutations in known genes) and further our understanding of the factors that can alter the symptoms of patients carrying the same mutation.
  
  • Improving the results of allogenic haematopoietic stem cell transplantations by the development of novel conditioning regimens and better treatments for post- transplantation complications.
  
  • Continuing gene therapy projects.




Authors  :

C. Hoareau-Aveilla & Y. Henry : Laboratoire de Biologie Moléculaire Eucaryote du CNRS, Université de Toulouse, UPS, 118 route de Narbonne, 31062 Toulouse cedex 09, France, Novembre 2007.

T. Leblanc : Service de Pédiatrie à orientation hématologique  et Centre de Référence des aplasies médullaires constitutionnelles rares. Hôpital Saint-Louis, 1 avenue Claude Vellefaux, 75475 Paris Cedex 10, France, Novembre 2007.
  
Medical informations
Last modified: novembre 26,  2007