Atypical progeroid syndrome: An unknown helicase gene defect?

American Journal of Medical Genetics

Volumn 116, Issue 3, 2003, Pages 295-299

  Ruijs, M W G ^a   Van Andel, R N J ^b   Oshima, J ^d   Madan, K ^c   Nieuwint, A W M ^c   Aalfs, C M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b ONZE LIEVE VROUWE GASTHUIS   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d NONE

Author keywords

Chromosomal instability; Helicase gene disorder; Hepatocellular carcinoma; Premature aging syndrome; Werner syndrome

Indexed keywords

HELICASE; HYALURONIC ACID;

ADOLESCENT; ARTICLE; ATYPICAL PROGEROID SYNDROME; CASE REPORT; CATARACT; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CLINICAL FEATURE; GENE MUTATION; GENETIC STABILITY; GROWTH RETARDATION; HAIR COLOR; HUMAN; INTELLIGENCE; LIVER CELL CARCINOMA; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; URINARY EXCRETION; URINE LEVEL;

EID: 12244263450     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10730     Document Type: Article

References (25)

1. Chu G, Mayne L. 1996. Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: do the genes explain the disease? Trends Genet 12:187-192.
2. Dyer CAE, Sinclair AJ. 1998. The premature ageing syndromes: insights into the ageing process. Age Ageing 27:73-80.
3. Ellis NA, German J. 1996. Molecular genetics of Bloom's syndrome. Hum Mol Genet 5:1457-1463.
4. Faivre L, Guardiola P, Lewis C, Dokal I, Ebell W, Zatterale A, Altay O, Poole J, Stones D, Kwee ML, van Weel-Sipman M, Havenga C, Morgan N, de Winter J, Digweed M, Savoia A, Pronk J, de Ravel T, Jansen S, Joenje H, Gluckman E, Mathew CG. 2000. Association of complementation group and mutation type with clinical outcome in Fanconi anemia. Blood 96;13:4064-4070.
5. Gebhart E, Bauer R, Raub U, Schinzel M, Ruprecht KW, Jonas JB. 1988. Spontaneous and induced chromosomal instability in Werner syndrome. Hum Genet 80:135-139.
6. Goto M, Miller RW, Ishikawa Y, Sugano H. 1996. Excess of rare cancers in Werner syndrome (adult progeria). Cancer Epidemiol Biomark Prevent 5:239-246.
7. Goto M, Yamabe Y, Shiratori M, Okada M, Kawabe T, Matsumoto T, Sugimoto M, Furuichi Y. 1999. Immunological diagnosis of Werner syndrome by down-regulated and truncated gene products. Hum Genet 105:301-307.
8. Gray MD, Wang L, Youssoufian H, Martin GM, Oshima J. 1998. Werner helicase is localized to transcriptionally active nucleoli of cycling cells. Exp Cell Res 242:487-494.
9. Llerena JC Jr, Murer-Orlando M. 1991. Bloom syndrome and ataxia telangiectasia. Semin Hematol 28:95-103.
10. Maraschio P, Danesino C, Antoccia A, Ricordy R, Tanzarella C, Varon R, Reis A, Besana D, Guala A, Tiepolo L. 2001. A novel mutation and novel features in Nijmegen breakage syndrome. J Med Genet 38:113-117.
11. Mathur R, Chowdhury MR, Singh G. 2000. Recent advances in chromosome breakage syndromes and their diagnosis. Indian Pediatr 37:615-625.
12. Melcher R, von Golitschek R, Steinlein C, Schindler D, Neitzel H, Kainer K, Schmid M, Hoehn H. 2000. Spectral karyotyping of Werner syndrome fibroblast cultures. Cytogen Cell Genet 91:180-185.
13. Mohaghegh P, Hickson ID. 2001. DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders. Hum Mol Genet 10:741-746.
14. Morita K, Nishigori C, Sasaki M, Matsuyoshi N, Ohta K, Okamoto H, Ikai K, Imamura S. 1997. Werner's syndrome - chromosome analyses of cultured fibroblasts and mitogen-stimulated lymphocytes. Br J Dermatol 136:620-623.
15. Nakura J, Ye L, Morishima A, Kohara K, Miki T. 2000. Helicases and ageing. Cell Mol Life Sci 57:716-730.
16. Pujol LA, Erickson RP, Heidenreich RA, Cunniff C. 2000. Variable presentation of Rothmund-Thomson syndrome. Am J Med Genet 95:204-207.
17. Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH, Robbins JH. 2000. Cockayne syndrome and xeroderma pigmentosum, DNA repair disorders with overlaps and paradoxes. Neurology 55:1442-1449.
18. Salk D. 1982. Werner's syndrome: a review of recent research with an analysis of connective tissue metabolism, growth control of cultured cells, and chromosomal aberrations. Hum Genet 62:1-15.
19. Scappaticci S, Forabosco A, Borroni G, Orecchia G, Fraccaro M. 1990. Clonal structural chromosomal rearrangements in lymphocytes of four patients with Werner's syndrome. Ann Genet 33:5-8.
20. Schonberg S, Niermeijer M, Bootsma D, Henderson E, German J. 1984. Werner's syndrome. Proliferation in vitro of clones of cells bearing chromosome translocations. Am J Hum Genet 36:387-397.
21. Varon R, Seemanova E, Chrzanowska K, Hnateyko O, Piekutowska-Abramczuk D, Krajewska-Walasek M, Sykut-Cegielska J, Sperling K, Reis A. 2000. Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations. Eur J Hum Genet 8:900-902.
22. Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M, Plon SE. 2001. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet 102:11-17.
23. Yamabe Y, Sugimoto M, Satoh M, Suzuki N, Sugawara M, Goto M, Furuichi Y. 1997. Down-regulation of the defective transcripts of the Werner's syndrome gene in the cells of patients. Biochem Biophys Res Commun 236:151-154.
24. Yu CE, Oshima J, Fu YH, Wijsman EM, Hisama F, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin GM, Mulligan J, Schellenberg GD. 1996. Positional cloning of the Werner's syndrome gene. Science 272:258-262.
25. Yu CE, Oshima J, Wijsman EM, Nakura J, Miki T, Piussan C, Matthews S, Fu YW, Mulligan J, Martin GM, Schellenberg GD. 1997. Mutations in the consensus helicase domains of the Werner's syndrome gene. Am J Hum Genet 60:330-341.