Dyskeratosis congenita caused by a 3' deletion: Germline and somatic mosaicism in a female carrier

Blood

Volumn 94, Issue 4, 1999, Pages 1254-1260

  Vulliamy, T J ^a   Knight, S W ^b   Heiss, N S ^b   Smith, O P ^b   Poustka, A ^b   Dokal, I ^b   Mason, P J ^b  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MESSENGER RNA;

ARTICLE; BONE MARROW DEPRESSION; CASE REPORT; CHROMOSOME MOSAICISM; DYSKERATOSIS CONGENITA; FEMALE; GENE DELETION; GENE LOCUS; HETEROZYGOSITY; HUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEX CHROMOSOME MOSAICISM; SYNDROME;

EID: 0033566881     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v94.4.1254     Document Type: Article

References (35)

1. Davidson HR, Connor JM: Dyskeratosis congenita. J Med Genet 25:843, 1988
2. 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 14:297, 1992
3. Dokal I: Dyskeratosis-congenita - An inherited bone-marrow failure syndrome. Br J Haematol 92:775, 1996
4. Knight SW, Vulliamy TJ, Copplestone A, Gluckman E, Mason PJ, Dokal I: Dyskeratosis congenita (DC) registry: Identification of new features of DC. Br J Haematol 103:990, 1998
5. Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I: X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 19:32, 1998
6. Jiang WD, Middleton K, Yoon HJ, Fouquet C, Carbon J: An essential yeast protein, CBF5p, binds in-vitro to centromeres and microtubules. Mol Cell Biol 13:4884, 1993
7. Meier UT, Blobel G: NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria. J Cell Biol 127:1505, 1994
8. Lafontaine D, BousquetAntonelli C, Henry Y, CaizerguesFerrer M, Tollervey D: The box H+ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase. Genes Dev 12:527, 1998
9. Luzzatto L, Karadimitris A: Dyskeratosis and ribosomal rebellion. Nat Genet 19:6, 1998
10. Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS, Lestringant G, Varma N, Mason PJ, Dokal I, Poustka A: X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet (in press)
11. Frohman MA: Rapid amplification of complementary-DNA ends for generation of full-length complementary DNAs-thermal race. Methods Ezymol 218:340, 1993
12. Zhang JG, Lin F, Chase A, Goldman JM, Cross NCP: Comparison of genomic DNA and cDNA for detection of residual disease after treatment of chronic myeloid-leukemia with allogeneic bone-marrow transplantation. Blood 87:2588, 1996
13. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW: Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X-chromosome inactivation. Am J Hum Genet 51:1229, 1992
14. Gale RE, Mein CA, Linch DC: Quantification of X-chromosome inactivation patterns in hematological samples using the DNA PCR-based HUMARA assay. Leukemia 10:362, 1996
15. Heiss NS, Korn B, Rogner UC, Poustka A: Generation of specific exon trap probes from YACs by using Alu long-range PCR products. Methods Mol Cell Biol 5:337, 1995
16. Devriendt K, Matthijs G, Legius E, Schollen E, Blockmans D, vanGeet C, Degreef H, Cassiman JJ, Fryns JP: Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am J Hum Genet 60:581, 1997
17. Vulliamy TJ, Knight SW, Dokal I, Mason PJ: Skewed X-inactivation in carriers of X-linked dyskeratosis congenita. Blood 90:2213, 1997
18. Knight SW, Vulliamy TJ, Heiss NS, Matthijs G, Devrendt K, Connor JM, D'Urso M, Poustka A, Mason PJ, Dokal I: 1.4Mb candidate gene region for X-linked dyskeratosis congenita defined by combined haplotype and X-chromosome inactivation analysis. J Med Genet 35:993, 1998
19. Bione S, Tamanini F, Maestrini E, Tribioli C, Poustka A, Torri G, Rivella S, Toniolo D: Transcriptional organization of a 450-kb region of the human X chromosome in Xq28. Proc Natl Acad Sci USA 90:10977, 1993
20. Chen EY, Zollo M, Mazzarella R, Ciccodicola A, Chen CN, Zuo L, Heiner C, Burough F, Repetto M, Schlessinger D, DqUrso M: Long-range sequence analysis in Xq28: Thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci. Hum Mol Genet 5:659, 1996
21. Rogner UC, Heiss NS, Kioschis P, Wiemann S, Korn B, Poustka A: Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28. Genome Res 6:922, 1996
22. Winkler AA, Bobok A, Zonneveld BJ, Steensma HY, Hooykaas PJ: The lysine-rich C-terminal repeats of the centromere-binding factor 5 (Cbf5) of Kluyveromyces lactis are not essential for function. Yeast 14:37, 1998
23. Kim AC, Metzenberg AB, Sahr KE, Marfatia SM, Chishti AH: Complete genomic organization of the human erythroid p55 gene (MPP1), a membrane-associated guanylate kinase homologue. Genomics 31:223, 1996
24. Ivanova VS, Zimonjic D, Popescu N, Bonner WM: Chromosomal localization of the human histone H2A.X gene to 11q23.2-q23.3 by fluorescence in situ hybridization. Hum Genet 94:303, 1994
25. Harris PC, Ward CJ, Peral B, Hughes J: Autosomal-dominant polycystic kidney-disease - Molecular analysis. Hum Mol Genet 4:1745, 1995
26. Garson K, Duhig T, Armes N, Colombo P, Fried M: Surf5 - A gene in the tightly clustered mouse surfeit locus is highly conserved and transcribed divergently from the rpL7A (Surf3) gene. Genomics 30:163, 1995
27. Svaren J, Apel ED, Simburger KS, Jenkins NA, Gilbert DJ, Copeland NA, Milbrandt J: The Nab2 and Stat6 genes share a common transcription termination region. Genomics 41:33, 1997
28. Batshake B, Sundelin J: The mouse genes for the EP(1) prostanoid receptor and the PKN protein-kinase overlap. Biochem Biophys Res Commun 227:70, 1996
29. Zlotogora J: Germ line mosaicism. Hum Genet 102:381, 1998
30. Kohler J, Rupilius B, Otto M, Bathke K, Koch MC: Germline mosaicism in 4q35 facioscapulohumeral muscular-dystrophy (FSHD1A) occurring predominantly in oogenesis. Hum Genet 98:485, 1996
31. Puck JM, Pepper AE, Bedard PM, Laframboise R: Female germ-line mosaicism as the origin of a unique IL2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. J Clin Invest 95:895, 1995
32. Boehmer AL, Brinkmann AO, Niermeijer MF, Bakker L, Halley DJ, Drop SL: Germ-line and somatic mosaicism in the androgen insensitivity syndrome: Implications for genetic counseling. Am J Hum Genet 60:1003, 1997
33. Froissait R, Maire I, Bonnet V, Levade T, Bozon D: Germline and somatic mosaicism in a female carrier of Hunter disease. J Med Genet 34:137, 1997
34. Levinson B, Lehesjoki AE, Delachapelle A, Gitschier J: Molecular analysis of hemophilia A mutations in the Finnish population. Am J Hum Genet 46:53, 1990
35. Bakker E, Veenema H, Dendunnen JT, Vanbroeckhoven C, Grootscholten PM, Bonten EJ, Vanommen GJ, Pearson PL: Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular-dystrophy mutations. J Med Genet 26:553, 1989