Syndrome-causing mutations in Werner syndrome

BioScience Trends

Volumn 2, Issue 4, 2008, Pages 147-150

  Goto, Makoto ^a  

^a TOIN UNIVERSITY OF YOKOHAMA   (Japan)

Author keywords

Aging; Genetic instability; Mutation; Werner syndrome; Xeroderma pigmentosum

Indexed keywords

EXODEOXYRIBONUCLEASE; RECQ HELICASE; WRN PROTEIN, HUMAN;

ARTICLE; GENETICS; HUMAN; MUTATION; WERNER SYNDROME; XERODERMA PIGMENTOSUM;

EXODEOXYRIBONUCLEASES; HUMANS; MUTATION; RECQ HELICASES; WERNER SYNDROME; XERODERMA PIGMENTOSUM;

EID: 77952312907     PISSN: 18817815     EISSN: 18817823     Source Type: Journal    
DOI: None     Document Type: Article

References (45)

1. Comfort A. Werner's syndrome. Lancet 1961; 2, 1152.
2. Fraccaro M, Bott MG, Calvert HT. Chromosomes in Werner's syndrome. Lancet 1962; 1, 536.
3. Learner N, Day HJ, Weiss L, Di George A. Chromosomes in Werrner's syndrome. Lancet 1962; 1:537.
4. Motsulsky AG, Schultz A, Priest J. Werner's syndrome: chromosomes, genes, and the ageing process. Lancet 1962; 1:160-161.
5. Epstein CJ, Martin GM, Schultz AG, Motulsky AG. Werner's syndrome. A review of its symptomatology, natural history, pathologic features, genetics and relationship to natural aging process. Medicine (Baltimore) 1966; 45:177-221.
6. Goto M, Rubenstein M, Weber J, Woods K, Drayna D. Genetic linkage of Werner's syndrome to five markers on chromosome 8. Nature 1992; 355:735-738.
7. Goto M. Clinical characteristics of Werner syndrome and other premature aging syndromes: Pattern of aging in progeroid syndromes. In: Gann Monograph on Cancer Research No.49. From premature gray hair to helicase-Werner syndrome:Implications for aging and cancer (Goto M, Miller RW, ed.). Karger, Tokyo, 2001; 27-39.
8. van Brabant AJ, Stan R, Ellis NA. DNA helicases, genomic instability, and human genetic disease. Annu Rev Genomics Hum Genet 2000; 1:409-459.
9. Fukuchi K, Martin GM, Monnat RJ. Mutator phenotype of Werner syndrome is characterized by extensive deletions. Proc Natl Acad Sci USA 1989; 86:5893-5897.
10. Kyoizumi S, Kusunoki Y, Seyama T, Hatamochi A, Goto M. In vivo somatic mutations in Werner's syndrome. Hum Genet 1998; 103:405-410.
11. Scappaticci S, Cerimele D, Fraccaro M. Clonal structural chromosomal rearrangements in primary fibroblast cultures and in lymphocytes of patients with Werner's syndrome. Hum Genet 1982; 62:16-24.
12. Hoehn H, Bryant EM, Au K, Norwood TH, Boman H, Martin GM. Variegated translocation mosaicism in human skin fibroblast cultures. Cytogenet Cell Genet 1975; 15:282-298.
13. Goto M. Hierarchical deterioration of body systems in Werner's syndrome: Implications for normal ageing. Mech Age Dev 1997; 98:239-254.
14. Goto M, Tanimoto K, Horiuchi Y, Sasazuki T. Family analysis of Werner's syndrome: A survey of 42 Japanese families with a review of the literature. Clin Genet 1981; 19:8-15.
15. Goto M, Miller R W, Ishikawa Y, Sugano H. Excess of rare cancers in Werner syndrome (Adult progeria). Cancer Epidemiol Biomarkers Prev 1996; 5:239-246.
16. Werner O. On cataract in conjunction with scleroderma. Doctoral dissertation. Kiel University. Schmidt and 149 Klaunig, Kiel, 1904.
17. Goto M, Matsuura M. Secular trends towards delayed onsets of pathologies and prolonged longevities in Japanese patients with Werner syndrome. BioScience Trends 2008; 2:81-87.
18. Satoh M, Imai M, Sugimoto M, Goto M, Furuichi Y. Prevalence of Werner's syndrome heterozygotes in Japan. Lancet 1999; 353:1766.
19. Satoh M, Matsumoto T, Imai M, Sugimoto M, Tsugane S, Furuichi Y, Goto M. Prevalence of Werner syndrome gene mutations in the Japanese population: A genetic epidemiological study. In: Gann Monograph on Cancer Research No.49. From premature gray hair to helicase-Werner syndrome:Implications for aging and cancer (Goto M, Miller RW, eds.). Karger, Tokyo, 2001; 19-25.
20. Ellis NA. Mutation-causing mutations. Nature 1996; 381:110-111.
21. Ishida R. A case of cataract associated with scleroderma. Jap J Ophthalmol 1917; 21:1025-1032. (in Japanese)
22. Funayama S, Tsukashima T, Nakazawa Y. A case of Werner syndrome associated with Klinefelter syndrome. Diabetes 1976; 19:569-574. 46XY/47XXY mosaicism
23. Ferramosca B, Masiello O. An unusual case of corporeal dysmorphism with XXYY diploidy. Folia Endocrinol (Roma) 1972; 25:161-173.
24. Tritsch H, Lischka G. Werner syndrome combined with pseudo-Klinefelter syndrome. Hautarzt 1968; 12:547-551.
25. Lischka G, Tritsch H. Pseudo-Klinefelter syndrome with Werner syndrome. Hautarzt 1971; 3:122-125.
26. Aulepp H. Werner syndrome with pseudo-Klinefelter syndrome. Z Hautkr 1977; 52:362-364.
27. Scriver CR, Beaudet AL, Sly WS, Valle D. The metabolic basis of inherited disease I 6 edition. 1989.
28. Tanihara H, Chihara E. Complications and keratopathy following cataract surgery in a case with Werner's syndrome. Jap J Clin Ophthalmol 1986; 40:409-411.
29. Tajima H, Tuji M, Ebara T, Shikama Y, Adachi M. A case of Werner's syndrome with diabetes mellitus and hyperlipidemia. J Showa Med University 1993; 53:401-405.
30. Kleeberg J. A case of Werner's syndrome. Acta Med Orient (Tel-Aviv) 1949; 8-9:145-146.
31. Valero A, Gellei B. Retinitis pigmentosa, hypertension and uremia in Werner's syndrome. Report of a case with necropsy findings. Brit Med L 1960; 2:351-354.
32. McKusick VA. Mendelian inheritance in man. 8th edition. The Johns Hopkins University Press, 1988.
33. Sakai N, Honzyo K, Ono Y, Uehara S, Itagaki Y, Izumiyama S, Hirayama N, Ishikura M. A case of Werner syndrome associated with clinically diagnosed Wilson disease. Hepatology 1990; 31:95.
34. Takahashi H. Cataract associated with abnormal statute and skin changes. Proc Clin Ophthalmol 1955; 49:100-102.
35. Yasuoka T. Cataract associated with multiple endocrine dysfunction. Proc Clin Ophthalmol 1956; 50:551.
36. German J, Takebe H. Bloom's syndrome. 14. The disoeder in Japan. Clin Genet 1989; 35:93-110.
37. German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA. Syndrome-causing mutations of the BLM gene inpersons in the Bloom's syndrome registry. Hum Mutat 2007; 28:743-753.
38. Lindor NM, Devries EMG, Michels VV, Schad CR, Jalal SM, Donovan KM, Smithson WA, Kvols LK, Thibodeau SN, Dewald GW. Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism. ClinGenet 1996; 49:124-129.
39. Kleijer WJ, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, Jaspers NGJ, Sarasin A, Stefanini M, Lehmann AR. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair 2008; 7:744-750.
40. Meyn MS. High spontaneous intrachromosomal recombination rates in ataxia-telangiectasia. Science 1993; 260:1327-1330.
41. Shiloh Y. ATM and related protein kinases: Safegurding genome integrity. Nature Rev Cancer 2003; 3:155-168.
42. Machino H, Miki Y, Teramoto T, Shiraishi S, Sasaki MS. Cytogenetic studies in a patient with porokeratosis of Mibelli, multiple cancers and a forme fruste of Werner's syndrome. Brit J Dermatol 1984; 111:579-586.
43. Takemiya M, Shiraishi S, Teramoto T, Miki Y. Bloom's syndrome with porokeratosis of Mibelli and multiple cancers of the skin, lung and colon. Clin Genet 1987; 31:35-44.
44. Hirsch-Kauffmann M, Schweiger M. Aging and chromosomal instability. Rev Physiol Biochem Pharmacol 1999; 139:141-174.
45. Crabbe L, Jauch A, Naeger CM, Holtgreve-Grez H, Karlseder J. Telomere dysfunction as a cause of genomic instability in Werner syndrome. Proc Natl Acad Sci USA 2007; 104:2205-2210.