Unstable familial transmissions of huntington disease alleles with 27-35 CAG repeats (intermediate alleles)

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 153, Issue 1, 2010, Pages 314-320

  Semaka, A ^a,b   Collins, J A ^a,b   Hayden, M R ^a,b  

^a Centre for Molecular Medicine and Therapeutics   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Genetic counseling; Huntington disease; Intermediate alleles; Repeat instability

Indexed keywords

ALLELE; ARTICLE; DATA BASE; DISEASE TRANSMISSION; FAMILY; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; HAPLOTYPE; HEREDITY; HUMAN; HUNTINGTON CHOREA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HUNTINGTON DISEASE; MALE; TRINUCLEOTIDE REPEATS;

EID: 73949125607     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30970     Document Type: Article

References (34)

1. Almqvist EW, Spence N, Nichol K, Andrew SE, Vesa J, Peltonen L, Anvret M, Goto J, Kanazawa I, Goldberg YP, Hayden MR. 1995. Ancestral differences in the distribution of the Δ2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: Insights into the genetic evolution of Huntington disease. Hum Mol Genet 4:207-214.
2. Almqvist EW, Elterman DS, MacLeod PM, Hayden MR. 2001. High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia. Clin Genet 60:198-205.
3. Andrew SE, Hayden MR. 1995. Origins and evolution of Huntington disease chromosomes. Neurodegeneration 4:239-244.
4. Andrew SE, Theilmann J, Hedrick A, Mah D, Weber B, Hayden MR. 1992. Significant nonrandom allelic association between Huntington disease and two loci separated by at least 3 Mb on 4p16.3. Genomics 13:301-311.
5. Andrew SE, Goldberg YP, Theilmann J, Zeisler J, Hayden MR. 1994.ACCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: Implications for diagnostic accuracy and predictive testing. Hum Mol Genet 3:65-67.
6. Brocklebank D, Gayán J, Andresen JM, Roberts SA, The International-Venezuela Collaborative Research Group, Young AB, Snodgrass SR, Penney JB, Ramos-Arroyo MA, Cha JJ, Rosas HD, Hersch SM, Feigin A, Cherny SS, Wexler NS, Housman DE, Cardon LR, 2009. Repeat instability in the 27-35 CAG range of the HD gene in the Venezuelan kindreds. Counseling implications. Am J Med Genet Part B 150B: 425-429.
7. Chong SS, Almqvist E, Telenius H, LaTray L, Nichol K, Bourdelat-Parks B, Goldberg YP, Haddad BR, Richards F, Sillence D, Greenberg CR, Ives E, Van den Engh G, Hughes MR, Hayden MR. 1997. Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: Evidence from single sperm analyses. Hum Mol Genet 6:301-309.
8. Conkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett RL, Pettersen BJ. 2005. Genetic counseling for fragile x syndrome: Updated recommendations of the national society of genetic counselors. J Genet Couns 14:249-270.
9. Falush D, Almqvist EW, Brinkmann RR, Iwasa Y, Hayden MR. 2001. Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. Am J Hum Genet 68:373-385.
10. Gatchel JR, Zoghbi HY. 2005. Diseases of unstable repeat expansion: Mechanisms and common principles. Nat Rev Genet 6:743-755.
11. Giovannone B, Sabbadini G, DiMaio L, Calabrese O, Castaldo I, FrontaliM, Novelleto A, Squitieri F. 1997. Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers. Hum Mutat 10:458-464.
12. Goldberg YP, Kremer B, Andrew SE, Theilmann J, Graham RK, Squitieri F, Telenius H, Adam S, Sajoo A, Starr E, Heiberg A, Wolff G, Hayden MR. 1993. Molecular analysis of new mutations for Huntington's disease: Intermediate alleles and sex of origin effects. Nat Genet 5:174-179.
13. Goldberg YP, McMurray CT, Zeisler J, Almqvist E, Sillence D, Richards F, Gacy AM, Buchanan J, Telenius H, Hayden MR. 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.
14. The 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.
15. International Huntington Association. (IHA) and the World Federation of Neurology (WFN) Research Group on Huntington's Chorea. 1994. Guidelines for the molecular genetics predictive test in Huntington's disease. Neurology 44:1533-1536.
16. Kremer B, Almqvist E, Theilmann J, Spence N, Telenius H, Goldberg YP, Hayden MR. 1995. Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet 57:343-350.
17. Leeflang EP, Zhang L, Tavare S, Hubert R, Srinidhi J, MacDonald ME, Myers RH, deYoung M, Wexler NS, Gusella JF, Arnheim N. 1995. Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: Quantification of the mutation frequency spectrum. Hum Mol Genet 4:1519-1526.
18. Lucotte G, Gerard N, Aouizerate A, Loirat F, Hazout S. 1997. Patterns of meiotic variability of the (CAG)n repeat in the Huntington disease gene. Genet Couns 8:77-81.
19. Maat-Kievit A, Helderman-van den Enden P, Losekoot M, de Knijff P, Belfroid R, Vegter-van der Vlis M, Roos R, Breuning M. 2001. Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease. Am J Med Genet 105:737-744.
20. MacDonald ME, Lin C, Srinidhi L, Bates G, Altherr M, Whaley WL, Lehrach H, Wasmuth J, Gusella JF. 1991. Complex patterns of linkage disequilibrium in the Huntington disease region. Am J Hum Genet 49: 723-734.
21. McCusker EA, Casse RF, Graham SJ, Williams DB, Lazarus R. 2000. Prevalence of Huntington disease in New South Wales in 1996. Med J Aust 173:187-190.
22. Myers RH, MacDonald ME, Koroshetz WJ, Duyao MP, Ambrose CM, Taylor SA, Barnes G, Srinidhi J, Lin CS, Whaley WL. 1993. De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nat Genet 5:168-173.
23. Pearson CE, Edamura KN, Cleary JD. 2005. Repeat instability: Mechanisms of dynamic mutations. Nat Rev Genet 6:729-742.
24. Ramos-Arroyo MA, Moreno S, Valiente A. 2005. Incidence and mutation rates of Huntington's disease in Spain: Experience of 9 years of direct genetic testing. J Neurol Neurosurg Psychiatry 76:337-342.
25. Rommens JM, Lin B, Hutchinson GB, Andrew SE, Goldberg YP, Glaves ML, Graham R, Lai V, McArthur J, McDonald H, Kalchman M, Clarke LA, Hayden MR. 1993. A transcription map of the region containing the Huntington disease gene. Hum Mol Genet 2:901-907.
26. Semaka A, Creighton S, Warby S, Hayden MR. 2006. Predictive Testing for Huntington disease: Interpretation and significance of intermediate alleles. Clin Genet 70:283-294.
27. Squitieri F, Andrew SE, Goldberg YP, Kremer B, Spence N, Zeisler J, Nichol K, Theilmann J, Greenberg J, Goto J, Kanazawa I, Vesa J, Peltonen L, Almqvist E, Anvret M, Telenius H, Lin B, Napolitano G, Morgan K, HaydenMR.1994.DNAhaplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence. Hum Mol Genet 3:2103-2114.
28. Stevanin G, Giunti P, Belal GD, Durr A, Ruberg M, Wood N, Brice A. 1998. De novo expansion of intermediate alleles in spinocerebellar ataxia 7. Hum Mol Genet 7:1809-1813.
29. Telenius H, Kremer HP, Theilmann J, Andrew SE, Almqvist E, Anvret M, Greenberg C, Greenberg J, Lucotte G, Squitieri F, Starr E, Goldberg YP, Hayden MR. 1993. Molecular analysis of juvenile Huntington disease: The major influence on (CAG)n repeat length is the sex of the affected parent. Hum Mol Genet 2:1535-1540.
30. Telenius H, Almqvist E,Kremer B, Spence N, Squitieri F, Nichol K, Grandell U, Starr E, Benjamin C, Castaldo I, Calabrese O, Anvret M, Goldberg YP, Hayden MR. 1995. Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease. Hum Mol Genet 4:189-195.
31. Trottier Y, Biancalana V, Mandel JL. 1994. Instability of CAG repeats in Huntington's disease: Relation to parental transmission and age of onset. J Med Genet 31:377-382.
32. Warby SC, Montpetit A, Hayden A, Carroll JB, Butland SL, Visscher H, Collins J, Semaka A, Hudson TJ, Hayden MR. 2009. CAG-expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am J Hum Genet 84:351-366.
33. n-dinucleotide repeat at the PDEB locus in 4p16.3. Hum Mol Genet 2:827.
34. Wheeler VC, Persichetti F, McNeil SM, Mysore JS, Mysore SS, MacDonald ME, Gusella JF, Wexler NS, US-Venezuela Collaborative Research Group. 2007. Factors associated with HD CAG repeat instability in Huntington disease. J Med Genet 44:695-701.