Reduced penetrance of the Huntington's disease mutation

Human Molecular Genetics

Volumn 6, Issue 5, 1997, Pages 775-779

  McNeil, Sandra M ^a   Novelletto, Andrea ^b   Srinidhi, Jayalakshmi ^a   Barnes, Glenn ^a   Kornbluth, Ira ^c   Altherr, Michael R ^d   Wasmuth, John J ^e   Gusella, James F ^a   MacDonald, Marcy E ^a   Myers, Richard H ^c  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d LOS ALAMOS NATIONAL LABORATORY   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

REPETITIVE DNA;

ADULT; AGED; ALLELE; ARTICLE; CASE REPORT; FAMILY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HUNTINGTON CHOREA; LIFE EXPECTANCY; MALE; PENETRANCE; PRIORITY JOURNAL; SYMPTOM;

EID: 8244246428     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.5.775     Document Type: Article

References (31)

1. Martin,J.B. and Gusella,J.F. (1986) Huntington's disease, pathogenesis and management. N. Engl. J. Med. 315, 1267-1276.
2. Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72, 971-983.
3. Harper,P.S. (1992) The epidemiology of Huntington's disease. Hum. Genet. 89, 365-376.
4. n repeat in sporadic Huntington's disease. Nature Genet. 5, 168-173.
5. Goldberg,Y.P., Kremer,B., Andrew.S.E., Theilmann,J., Graham,R.K., Squitieri,F., Telenius,H., Adam,S., Sajoo,A., Starr,E., Heiberg,A., Wolff,G. and Hayden,M.R. (1993) Molecular analysis of new mutations for Huntington's disease, intermediate alleles and sex of origin effects. Nature Genet. 5, 174-179.
6. Goldberg,Y.P., Andrew,S.E., Theilmann,J., Kremer,B., Squitieri,F., Telenius,H., Brown,J.D. and Hayden,M.R. (1993) Familial predisposition to recurrent mutations causing Huntington's disease: genetic risk to sibs of sporadic cases. J. Med. Genet. 30, 987-990.
7. n repeat causing Huntington's disease in 352 patients of German origin. Hum. Mol. Genet. 2, 1467-1469.
8. Trottier,Y., Biancalana,V. and Mandel,J-L. (1993) Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. J. Med. Genet. 31, 377-382.
9. Davis,M.B., Bateman,D., Quinn,N.P., Marsden,C.D. and Harding,A.E. (1994) Mutation analysis in patients .with possible but apparently sporadic Huntington's disease. Lancet 344, 714-717.
10. Dürr,A., Dodé,C., Hahn,V., Pêcheux,C., Pillon,B., Feingold,J., Kaplan,J.-C., Agid,Y. and Brice,A. (1995) Diagnosis of 'sporadic' Huntington's disease. J. Neurol. Sci. 129, 51-55.
11. De Rooji,K.E., De Koning Gans,P.A.M., Skraastad,M.I., Belfroid,R.D.M., Vegter-Van Der Vlis,M., Roos,R.A.C., Bakker,E., Van Ommen,G.-J.B., Dunnen,J.T.D. and Losekoot,M. (1993) Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range. J. Med. Genet. 30, 996-1002.
12. Goldberg,Y.P., McMurray,C.T., Zeisler,J., Almqvist,E., Sillence,D., Richards,F., Gacy,A.M., Buchanan,J., Telenius,H. and Hayden,M.R. (1995) Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum. Mol. Genet. 4, 1911-1918.
13. Rubinsztein,D.C., Leggo,J., Coles,R., Almqvist,E., Biancalana,V., Cassiman,J.J., Chotai,K., Connarty,M., Craufurd,D., Curtis,A., Curtis,D., Davidson,M.J., Differ,A.M., Dode,C., Dodge,A., Frontali,M., Ranen,N.G., Stine,O.C., Sherr,M., Abbott,M.H., Franz,M.L., Graham,C.A., Harper,P.S., Hedreen,J.C, Jackson,A., Kaplan,J.C., Losekoot,M., MacMillan,J.C., Morrison,P., Trottier,Y., Novelletto,A., Simpson,S.A., Theilmann,J., Whittaker,J.L., Folstein,S.E., Ross,C.A. and Hayden,M.R. (1996) Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am. J. Hum. Genet. 59, 16-22.
14. Novelletto,A, Persichetti,F., Sabbadini,G., Mandich,P., Bellone,E., Ajmar,F., Pergola,M., Del Senno,L., MacDonald.M.E., Gusella,J.F. and Frontali,M. (1994) Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease. Hum. Mol. Genet. 3, 93-98.
15. Barron,L.H., Warner,J.P., Porteous,M., Holloway,S., Simpson,S., Davidson,R. and Brock,D.J.H. (1993) A survey of the Huntington's disease associated trinucleotide repeat in the Scottish population. J. Med. Genet. 30, 1003-1007.
16. Duyao,M., Ambrose,C.M., Myers,R.H., Novelletto,A., Persichetti,F., Frontali,M., Folstein,S.E., Ross,C., Franz,M.L., Abbott,M., Gray,J., Conneally,P.M., Young,A., Penney,J., Hollingsworth,Z., Shoulson,I., Lazzarini,A.M., Falek,A., Koroshetz,W., Sax,D.S., Bird,E., Vonsattel,J.P., Bonilla,E., Alvir,J., Bickham Conde,J., Cha,J.H., Dure,L., Gomez,F., Ramos,M., Sanchez-Ramos,J., Snodgrass,S.R.,de Young,M., Wexler,N.S., Barnes,G., Srinidhi,J., MacDonald,M.E. and Gusella,J.F. (1993) Trinucleotide repeat length instability and age of onset in Huntington's disease. Nature Genet. 4, 387-392.
17. Stine,C.O., Pleasant,N., Franz,M.L., Abbott,M.H., Folstein,S.E. and Ross,C.A. (1993) Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15. Hum. Mol. Genet. 2, 1547-1549.
18. Andrew,S.E., Goldberg,Y.P., Kremer,B., Telenius,H., Theilmann,J., Adam,S., Starr,E., Squitieri,F., Lin,B., K-alchman,M.A., Graham,R.K. and Hayden,M.R. (1993) The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nature Genet. 4, 398-403.
19. Snell,R.G., MacMillan,J.C., Cheadle,J.P., Fenton,I., Lazarou,L.P., Davies,P., MacDonald,M.E., Gusella,J.F., Harper,P.S. and Shaw,D.S. (1993) Relationship between trinucleotide repeat expansion and phenolypic variation in Huntington's disease. Nature Genet. 4, 393-397.
20. n repeat in the Huntington disease gene. Hum. Mol. Genet. 2, 2063-2067.
21. Craufurd,D. and Dodge,A. (1993) Mutation size and age at onset in Huntington's disease. J. Med. Genet. 30, 1008-1011.
22. Novelletto,A., Persichetti,F, Sabbadini,G., Mandich,P., Bellone,E., Ajmar,F., Squitieri,F., Campanella,G., Bozza,A., MacDonald,M.E., Gusella,J.F., Frontali,M. et al. (1994) Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease. Hum. Mol. Genet. 3, 1129-1132.
23. Kremer,B., Goldberg,Y.P., Andrew,S.E., Theilmann,J., Telenius,H., Zeisler,J., Squitieri,F., Lin,B., Bassett,A., Almqvist,E., Bird,T.D. and Hayden,M.R. (1994) A worldwide study of the Huntington's disease mutation: The sensitivity and specificity of measuring CAG repeats, N. Engl. J. Med. 330, 1401-1406.
24. Kunst,C.B. and Warren,S.T. (1994) Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77, 853-861.
25. Zong,N., Ye,L., Dobkin,C. and Brown,W.T. (1994) Fragile X founder chromosome effects: linkage disequilibrium or microsatellite heterogeneity? Am. J. Med. Genet. 51, 405-411.
26. Almqvist,E., Spence,N., Nichol,K., Andrew,S.E., Vesa,J., Peltonen,L., Anvret,M., Goto,J., Kanazawa,I., Goldberg,Y.P. and Hayden,M.R. (1995) Ancestral differences in the distribution of the 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington's disease. Hum. Mol. Genet. 4, 207-214.
27. Wamer,J.P., Barron,L.H. and Brock,D.J.H. (1993) A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol. Cell. Probes 7, 235-239.
28. Taylor,S.A.M., Barnes,G.T, MacDonald.M.E. and Gusella,J.F. (1984) A dinucleotide repeat polymorphism at he D4S127 locus. Hum. Mol. Genet. 137, 266-267.
29. n repeats causing Huntington's disease. Hum. Mol. Genet. 2, 637.
30. n repeats causing Huntington's disease. Hum. Mol. Genet. 2, 1523.
31. Murray,V. (1989) Improved double stranded DNA sequencing using the linear polymerase chain reaction. Nucleic Acids Res. 17, 8889.