Dyskeratosis congenita: An update;La dyskératose congénitale: Mise au point

Archives de Pediatrie

Volumn 20, Issue 3, 2013, Pages 299-306

  Mialou, V ^a   Leblanc, T ^b   de Latour, R Peffault ^c   Dalle, J H ^b   Socie G ^c  

^a Institut D'Hématologie et Oncologie Pédiatrique   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c SAINT LOUIS HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; DYSKERIN; TELOMERASE REVERSE TRANSCRIPTASE;

AGE DISTRIBUTION; APLASTIC ANEMIA; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BONE MARROW DEPRESSION; CANCER RISK; CHILDHOOD; CLINICAL FEATURE; DISEASE COURSE; DKC1 GENE; DYSKERATOSIS CONGENITA; EYE DISEASE; FANCONI ANEMIA; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HIGH RISK POPULATION; HOYERAAL HREIDARSSON SYNDROME; HUMAN; LEUKOPLAKIA; LIVER DISEASE; LUNG DISEASE; MOLECULAR PATHOLOGY; NAIL DYSTROPHY; NEUROLOGIC DISEASE; NOLA2 GENE; NOLA3 GENE; REVESZ SYNDROME; SHORT SURVEY; SKIN PIGMENTATION; TELOMERE HOMEOSTASIS; TELOMERE SHORTENING; TERC GENE; TERT GENE; TINF2 GENE; X CHROMOSOME LINKED DISORDER;

CHILD; DYSKERATOSIS CONGENITA; HUMANS;

EID: 84875375628     PISSN: 0929693X     EISSN: 1769664X     Source Type: Journal    
DOI: 10.1016/j.arcped.2012.12.003     Document Type: Short Survey

References (24)

1. Dokal I. Dyskeratosis congenita: an inherited bone marrow failure syndrome. Br J Haematol 1996, 92:775-779.
2. Bessler M., Wilson D.B., Mason J. Dyskeratosis congenita. FEBS Lett 2010, 584:3831-3838.
3. Knight S., Vulliamy T., Copplestone A., et al. Dyskeratosis congenita (DC) registry: identification of new features of DC. Br J Haematol 1998, 103:990-996.
4. Savage S.A., Dokal I., Armanios M., et al. Dyskeratosis congenita: the first NIH clinical research workshop. Pediatr Blood Cancer 2009, 53:520-523.
5. Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol 2000, 110:768-779.
6. Vulliamy T.J., Marrone A., Knight S.W., et al. Mutation in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 2006, 107:2680-2685.
7. Savage S.A., Alter B.P. Dyskeratosis congenita. Hematol Oncol Clin North Am 2009, 23:215-231.
8. Sölder B., Weiss M., Jäger A., et al. Dyskeratosis congenita: multisystemic disorder with special consideration of immunologic aspects. Clin Pediatr 1998, 37:521-530.
9. Vuillamy T., Dokal I. Dyskeratosis congenita. Semin Hematol 2006, 43:157-166.
10. Savage S.A., Giri N., Baerlocher G.M., et al. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenital. Am J Hum Genet 2008, 82:501-509.
11. Walne A.J., Vuillamy T., Beswick R., et al. TINF2 mutations result in very short telomeres: analysis of a large cohort of patient with dyskeratosis congenital and related bone marrow failure syndrome. Blood 2008, 112:3594-3600.
12. Coulthard S., Chase A., Pickard J., et al. Chromosomal breakages analysis in dyskeratosis congenita peripheral blood lymphocytes. Br J Haematol 1998, 102:1162-1164.
13. Du H.Y., Pumbo E., Ivanovich J., et al. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. Blood 2009, 113:309-316.
14. Heiss N.S., Knight S.W., Vulliamy T.J., et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 1998, 19:32-38.
15. Vulliamy T., Marrone A., Szydlo R., et al. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 2004, 36:447-449.
16. Vulliamy T.J., Walne A., Baskaradas A., et al. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis 2005, 34:257-263.
17. Walne A.J., Vulliamy T., Marrone A., 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, 16:1619-1629.
18. Vulliamy T., Beswick R., Kirwan M., et al. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc Natl Acad Sci U S A 2008, 105:8073-8078.
19. Marrone A., Walne A., Tamary H., et al. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood 2007, 110:4198-4205.
20. Dror Y., Freedman M.H., Leaker M., et al. Low-intensity hematopoietic stem-cell transplantation across human leucocyte antigen barriers in dyskeratosis congenita. Bone Marrow Transplant 2003, 31:847-850.
21. Rocha V., Devergie A., Socié G., et al. Unusual complications after bone marrow transplantation for dyskeratosis congenita. Br J Haematol 1998, 103:243-248.
22. De la Fuente J., Dokal I. Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation. Pediatr Transplant 2007, 11:584-594.
23. Tolar J., Orvhard P.J., Miller J.S., et al. Dyskeratosis congenital: low regimen-related toxicity following hematopoietic cell transplantation using a reduced intensity conditioning regimen. Blood 2007, 110:2005. [ASH Annual Meeting Abstract].
24. Nishio N., Takahashi Y., Ohashi H., et al. Reduced-intensity conditioning for alternative donor hematopoietic stem cell transplantation in patients with dyskeratosis congenita. Pediatr Transplant 2011, 15:161-166.