Dyskeratosis congenita: Its link to telomerase and aplastic anaemia

Blood Reviews

Volumn 17, Issue 4, 2003, Pages 217-225

  Dokal, Inderjeet ^a   Vulliamy, Tom ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Aplastic anaemia; Dyskeratosis congenita; Dyskerin; Hoyeraal Hreidarsson syndrome; Telomerase

Indexed keywords

DYSKERIN; GENE PRODUCT; PSEUDOURACIL; RIBOSOME RNA; SMALL NUCLEOLAR RNA; TELOMERASE; UNCLASSIFIED DRUG; URACIL;

ADULT; APLASTIC ANEMIA; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BONE MARROW DEPRESSION; CLINICAL FEATURE; DISEASE ASSOCIATION; DYSKERATOSIS CONGENITA; ENZYME ACTIVITY; GENE MUTATION; HUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; X CHROMOSOME RECESSIVE DISORDER;

EID: 0242354776     PISSN: 0268960X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0268-960X(03)00020-1     Document Type: Review

References (82)

1. Zinsser F. Atropha cutis reticularis cum pigmentatione, dystrophia ungiumet leukoplakia oris. Ikonogr Dermatol (Hyoto) 1906; 5: 219-223.
2. Engman MF. A unique case of reticular pigmentation of the skin with atrophy. Arch Dermatol Syph 1926; 13: 685-687.
3. Cole HN, Rauschkolb JC, Toomey J. Dyskeratosis congenita with pigmentation, dystrophia unguis and leukokeratosis oris. Arch Dermatol Syph 1930; 21: 71-95.
4. Sirinavin C, Trowbridge AA. Dyskeratosis congenita: clinical features and genetic aspects: report of a family and review of the literature. J Med Genet 1975; 12: 339-354.
5. Drachtman RA, Alter BP. Dyskeratosis congenita. Dermatol Clin 1995; 13: 33-39.
6. 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.
7. Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol 2000; 110: 768-779.
8. Sorrow JM, Hitch JM. Dyskeratosis congenita: first report of its occurrence in a female and a review of the literature. Arch Dermatol 1963; 88: 340-347.
9. Ling NS, Fenske NA, Julius RL et al. Dyskeratosis congenita in a girl simulating chronic graft-vs-host disease. Arch Dermatol 1985; 21: 1424-1428.
10. Juneja HS, Elder FFB, Gardner FH. Abnormality of platelet size and T-lymphocyte proliferation in an autosomal recessive form of dyskeratosis congenita. Eur J Haematol 1987; 39: 306-310.
11. Pai GS, Morgan S, Whetsell C. Etiologic heterogeneity in dyskeratosis congenita. Am J Med Genet 1989; 32: 63-66.
12. Drachtman RA, Alter BP. Dyskeratosis congenita: clinical and genetic heterogeneity. Report of a new case and review of the literature. Am J Pediatr Hematol Oncol 1992; 14: 297-304.
13. Joshi RK, Atukorala DN, Abanmi A et al. Dyskeratosis congenita in a female. Br J Dermatol 1994; 130: 520-522.
14. Elliott AM, Graham GE, Bernstein M et al. Dyskeratosis congenita: an autosomal recessive variant. Am J Med Genet 1999; 83: 178-182.
15. De Boeck K, Degreef H, Verwilghen R et al. Thrombocytopenia: first symptom in a patient with dyskeratosis congenita. Pediatrics 1981; 67: 898-903.
16. Forni GL, Melevendi C, Jappelli S et al. Rasore-Quartino A. Dyskeratosis congenita: Unusual presenting features within a kindred. Paediatr Hematol Oncol 1993; 10: 145-149.
17. Philips RJ, Judge M, Webb D et al. Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation. Br J Dermatol 1992; 127: 278-280.
18. Russo CL, Glader BE, Israel RJ et al. Treatment of neutropenia associated with dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor. Lancet 1990; 336: 751-752.
19. Alter BP, Gardner EH, Hall RE. Treatment of dyskeratosis congenita with granulocyte macrophage colony-stimulating factor and erythropoietin. Br J Haematol 1997; 97: 309-311.
20. Berthou C, Devergi A, D'Agay MF et al. Late vascular complications after bone marrow transplantation for dyskeratosis congenita. Br J Haematol 1991; 79: 335-336.
21. Dokal I, Bungey J, Williamson P et al. Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements. Blood 1992; 80: 3090-3096.
22. Langston AA, Sanders JE, Deeg HJ et al. Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita. Br J Haematol 1996; 92: 758-765.
23. Yabe M, Yabe H, Hattori et al. Fatal interstitial pulmonary disease in a patient with DC after allogeneic bone marrow transplantation. Bone Marrow Transplant 1997; 19: 389-392.
24. Rocha V, Devergie A, Socie G et al. Unusual complications after bone marrow transplantation for dyskeratosis congenita. Br J Haematol 1998; 103: 243-248.
25. Ghavamzadeh A, Alimoghadam K, Nasseri P et al. Correction of bone marrow failure in dyskeratosis congenita by bone marrow transplantation. Bone Marrow Transplant 1999; 23: 299-301.
26. Lau YL, Ha SY, Chan CF et al. Bone marrow transplant for dyskeratosis congenita. Br J Haematol 1999; 105: 571.
27. Nobili B, Rossi G, De Stefano P et al. Successful umbilical cord blood transplantation in a child with dyskeratosis congenital after a fludarabine-based reduced-intensity conditioning regimen. Br J Haematol 2002; 119: 574-575.
28. Cossu F, Vulliamy TJ, Marrone A et al. A novel DKCI mutation, severe combined immunodeficiency (T+B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. Br J Haematol 2002; 119: 765-768.
29. Gunger T, Corbacioglu S, Storb R et al. Nonmyeloablative allogeneic hematopoietic stem cell transplantation for treatment of dyskeratosis congenita. Bone Marr Trans 2003; 31: 407-410.
30. Morrison JG. Dyskeratosis congenita, two extremes. S Af Med J 1974;48:223-225.
31. Pai GS, Yan Y, DeBauche DM et al. Bleomycin hypersensitivity in dyskeratosis congenita fibroblasts, lymphocytes and transformed lymphoblasts. Cytogenet Cell Genet 1989; 52: 186-189.
32. DeBauche DM, Pai GS, Stanley WS. Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts. Am J Hum Genet 1990; 46: 350-357.
33. Ning Y, Yongshan Y, Pai GS et al. Heterozygote detection through bleomycin-induced G2 chromatid breakage in dyskeratosis congenita families. Cancer Genet Cytogenet 1992; 60: 31-34.
34. Coulthard S, Chase A, Pickard J et al. Chromosome breakage analysis in dyskeratosis congenita peripheral blood lymphocytes, Br J Haematol 1998; 102: 1162-1164.
35. Scappaticci S, Fraccaro M, Cerimele D. Chromosomal abnormalities in dyskeratosis congenita. Am J Med Genet 1989; 34: 609-610.
36. Kehrer H, Krone W. Chromosome abnormalities in cell cultures derived from the leukoplakia of a female patient with dyskeratosis congenita. Am J Med Genet 1992; 42: 217-218.
37. Kehrer H, Krone W, Schindler D et al. Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita. Clin Genet 1992; 41: 129-134.
38. Demiroglu H, Alikasifoglu M, Dundar S. Dyskeratosis congenita with an unusual chromosomal abnormality. Br J Haematol 1997; 97: 243-244.
39. Dokal I, Luzzatto L. Dyskeratosis congenita is a chromosomal instability disorder. Leukemia Lymphoma 1994; 15: 1-7.
40. Colvin BT, Baker H, Hibbin JA et al. Haemopoietic progenitor cells in dyskeratosis congenita. Br J Haematol 1984; 56: 513-515.
41. Friedland M, Lutton JD, Spitzer R et al. Dyskeratosis congenita with hypoplastic anemia: a stem cell defect. Am J Hematol 1985; 20: 85-87.
42. Alter BP, Knobloch ME, He L et al. Effect of stem cell factor on in vitro erythropoiesis in patients with bone marrow failure syndromes. Blood 1992; 80: 3000-3008.
43. Marsh CW, Will AJ, Hows JH et al. "Stem cell" origin of the hematopoietic defect in dyskeratosis congenita. Blood 1992; 79: 3138-3144.
44. Devriendt K, Matthiis G, Legius E et al. Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am J Hum Genet 1997; 60: 581-587.
45. Vulliamy TJ, Knight SW, Dokal I et al. Skewed X-inactivation in carriers of X-linked dyskeratosis congenita. Blood 1997; 90: 2213-2216.
46. Connor JM, Teague RH. Dyskeratosis congenita: report of a large kindred. Br J Dermatol 1981; 105: 321-325.
47. Connor JM, Gatherer D, Gray FC et al. Assignment of the gene for dyskeratosis congenita to Xq28. Hum Genet 1986; 72: 348-351.
48. Knight SW, Vulliamy T, Forni GL et al. Fine mapping of the dyskeratosis congenita locus in Xq28. J Med Genet 1996; 33: 993-995.
49. Knight SW, Vulliamy TJ, Heiss NS et al. 1.4 Mb candidate gene region for X-linked dyskeratosis congenita defined by combined haplotype and X-chromosome inactivation analysis. J Med Genet 1998; 53: 993-996.
50. Heiss NS, Knight SW, Vulliamy TJ 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.
51. Hassock S, Vetrie D, Giannelli F. Mapping and characterization of X-linked dyskeratosis congenita (DKC) gene. Genomics 1999; 55: 21-27.
52. Knight SW, Heiss NS, Vulliamy TJ et al. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKCI gene. Am J Hum Genet 1999; 65: 50-58.
53. Vulliamy TJ, Knight SW, Heiss NS et al. Dyskeratosis congenita caused by a 3′ deletion: germline and somatic mosaicism in a female carrier. Blood 1999; 94: 1254-1260.
54. Knight SW, Vulliamy TJ, Morgan B et al. Identification of novel DKCI mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. Hum Genet 2001; 108: 299-303.
55. Heiss NS, Megarbane A, Klauck SM et al. One novel and two recurrent missense DKCI mutations in patients with dyskeratosis congenita (DKC). Genet Couns 2001; 12: 129-136.
56. Hiramatsu H, Fujii T, Kitoh T et al. A novel missense mutation in the DKCI gene in a Japanese family with X-linked dyskeratosis congenita. Pediatr Hematol Oncol 2002; 19: 413-419.
57. Hoyeraal HM, Lamvik J, Moe PJ. Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers. Acta Paediatr Scand 1970; 59: 185-191.
58. Hreidarsson S, Kristjansson K, Johannesson G et al. A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure. Acta Paediatr Scand 1988; 77: 773-775.
59. Berthet F, Caduff R, Schaad UB et al. A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia. Eur J Pediatr 1994; 153: 333-338.
60. Aalfs CM, van den Berg H, Barth PG et al. The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. Eur J Pediatr 1995; 154: 304-308.
61. Ohga S, Kai T, Honda K et al. What are the essential symptoms in the Hoyeraal-Hreidarsson syndrome?. Eur J Pediatr 1997; 156: 80-81.
62. Nespoli L, Lascari C, Maccario R et al. The Hoyeraal-Hreidarsson syndrome: the presentation of the seventh case. Eur J Pediatr 1997; 156: 818-820.
63. Knight SW, Heiss NS, Vulliamy TJ et al. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKCI. Br J Haematol 1999; 107: 335-339.
64. Youssoufian H, Gharibyan V, Qatanani M. Analysis of epitope-tagged forms of the dyskeratosis congenita protein (dyskerin): identification of a nuclear localization signal. Blood Cells Mol Dis 1999; 25: 305-309.
65. Heiss NS, Girod A, Saowsky R et al. Dyskerin localises to the nucleolus and its mislocalisation is unlikely to play a role in the pathogenesis of dyskeratosis congenita. Hum Mol Genet 1999; 8: 2515-2524.
66. Cadwell C, Yoon HJ, Zebarjadian Y et al. The yeast nucleolar protein Cbf5p is involved in rRNA biosynthesis and interacts genetically with the RNA polymerase I transcription factor RRN3. Mol Cell Biol 1997; 17: 6175-6178.
67. Meier UT, Blobel G, NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria. J Cell Biol 1994; 127: 1505-1514.
68. Giordano E, Peluso I, Senger S et al. Minifly, a Drosophila gene required for ribosome biogenesis. J Cell Biol 1999; 144: 1123-1133.
69. Tollervey D, Kiss T. Function and synthesis of small nucleolar RNAs. Curr Opin Cell Biol 1997; 9: 337-342.
70. Mitchell JR, Cheng J, Collins K. A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA3′ end. Mol Cell Biol 1999; 19: 567-576.
71. Mitchell JR, Wood E, Collins K. A telomerase component is defective in the human disease dyskeratosis congenita. Nature 1999; 402: 551-555.
72. Collins K, Mitchell JR. Telomerase in the human organism. Oncogene 2002; 21: 564-579.
73. Vulliamy TJ, Knight SW, Mason PJ et al. Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells Mol Dis 2001; 27: 353-357.
74. Vulliamy T, Marrone A, Goldman F et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001; 413: 432-435.
75. Marciniak R, Guarente L. Testing telomerase. Nature 2001; 413: 370-373.
76. Blasco MA, Lee HW, Hande P et al. Telomere shortening and tumor formation by mouse cells lacking telomerase RNA. Cell 1997; 91: 25-34.
77. Lee HW, Blasco MA, Gottlieb GJ et al. Essential role of mouse telomerase in highly proliferative organs. Nature 1998; 392: 569-574.
78. Rudolph KL, Chang S, Lee HW et al. Longevity, stress response, and cancer in aging telomerase-deficient mice. Cell 1999; 96: 701-712.
79. Artandi SE, Chang S, Lee SL et al. Telomere dysfunction promotes non-reciprocal translocations and epithelial cancers in mice. Nature 2000; 406: 641-645.
80. Ball SE, Gibson FM, Rizzo S et al. Progressive telomere shortening in aplastic anemia. Blood 1998; 91: 3582-3592.
81. Brummendorf T, Maciejeweski JP, Mak J et al. Telomere length in leucocyte subpopulations of patients with aplastic anemia. Blood 2001; 97: 895-900.
82. Vulliamy T, Marrone A, Dokal I et al. Association between aplastic anaemia and mutations in telomerase RNA. Lancet 2002; 359: 2168-2170.