Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita

British Journal of Haematology

Volumn 129, Issue 3, 2005, Pages 432-434

  Kanegane, Hirokazu ^a   Kasahara, Yoshihito ^b   Okamura, Jun ^c   Hongo, Teruaki ^d   Tanaka, Rieko ^e   Nomura, Keiko ^a   Kojima, Seiji ^f   Miyawaki, Toshio ^a  

^a TOYAMA MEDICAL AND PHARMACEUTICAL UNIVERSITY   (Japan)

^b KANAZAWA UNIVERSITY   (Japan)

^c NATIONAL KYUSHU CANCER CENTER   (Japan)

^d HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e JAPANESE RED CROSS WAKAYAMA MEDICAL CENTER   (Japan)

^f NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Aplastic anaemia; Bone marrow transplantation; DKC1; Dyskeratosis congenita; Telomerase

Indexed keywords

ALANINE; GLUTAMINE; LYSINE; THREONINE;

ADOLESCENT; APLASTIC ANEMIA; ARTICLE; CLINICAL ARTICLE; DKC1 GENE; DYSKERATOSIS CONGENITA; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; LEUKOPLAKIA; MISSENSE MUTATION; NAIL DYSTROPHY; PIGMENT DISORDER; PRIORITY JOURNAL; SCHOOL CHILD; X CHROMOSOME LINKED DISORDER; X CHROMOSOME RECESSIVE INHERITANCE;

ANEMIA, APLASTIC; BASE SEQUENCE; BONE MARROW TRANSPLANTATION; CELL CYCLE PROTEINS; CHILD; DIAGNOSIS, DIFFERENTIAL; DYSKERATOSIS CONGENITA; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; NUCLEAR PROTEINS;

EID: 18444371155     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2005.05473.x     Document Type: Article

References (12)

1. Dokal, I. (2000) Dyskeratosis congenita in all its forms. British Journal of Haematology, 110, 768-779.
2. Heiss, N.S., Knight, S.W., Vulliamy, T.J., Klauck, S.M., Wiemann, S., Mason, P.J., Poustka, A. & Dokal, I. (1998) X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nature Genetics, 19, 32-38.
3. Hiramatsu, H., Fujii, T., Kitoh, T., Sawada, M., Osaka, M., Koami, K., Irino, T., Miyajima, T., Ito, M., Sugiyama, T. & Okuno, T. (2002) A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita. Pediatric Hematology and Oncology, 19, 413-119.
4. Kanegane, H., Nomura, K., Kasahara, Y., Okamura, J., Hongo, T., Yabe, M., Kojima, S., Kitoh, T. & Miyawaki, T. (2002) Genetic analysis of DKC1 in dyskeratosis congenita. Shouni Ketsueki Gakkai Zasshi, 16, 78-83 (in Japanese).
5. Knight, S.W., Heiss, N.S., Vulliamy, T.J., Greschner, S., Stavrides, G., Pai, G.S., Lestringant, G., Varma, N., Mason, P.J., Doka, I. & Poustka, A. (1999a) X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. American Journal of Human Genetics, 65, 50-58.
6. Knight, S.W., Heiss, N.S., Vlliamy, T.J., Aalfs, C.M., McMahon, C, Richmond, P., Jones, A., Hennekam, R.C.M., Poustka, A., Mason, P.J. & Dokal, I. (1999b) Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. British Journal of Haematology, 107, 335-339.
7. Langston, A.A., Sanders, J.E., Joachim Deeg, H., Crawford, S.W., Anasetti, C., Sullivan, K.M., Flowers, M.E.D. & Storb, R. (1996) Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenital. British Journal of Haematology, 92, 758-765.
8. Marrone, A. & Dokal, I. (2004) Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer. Expert Reviews in Molecular Medicine, 6, 1-23.
9. Rocha, V., Devergie, A., Socie, G., Ribaud, P., Esperou, H, Parquet, N. & Gluckman, E. (1998) Unusual complications after bone marrow transplantation for dyskeratosis congenita. British Journal of Haematology, 103, 243-248.
10. Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessier, M., Mason, P.J. & Dokal, I. (2001) The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenital. Nature, 413, 432-135.
11. Wong, J.M.Y., Kyasa, M.J., Mutchins, L & Collins, K. (2004) Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita. Human Genetics, 115, 448-455.
12. Yoshimoto, T., Yanabe, Y., Mizukami, T., Ishibashi, F., Adachi, N., Takaki, K. & Nunoi, H. (2000) Genetic analysis of a patient with dyskeratosis congenita. Rinsho Ketsueki, 41, 524-529 (in Japanese).