Huntingtin gene CAG repeat numbers in Chinese patients with Huntington's disease and controls

European Journal of Neurology

Volumn 21, Issue 4, 2014, Pages 637-642

  Jiang, H ^a,b   Sun, Y M ^c   Hao, Y ^d   Yan, Y P ^e   Chen, K ^f   Xin, S H ^g   Tang, Y P ^h   Li, X H ^g   Jun, T ^e   Chen, Y Y ^d   Liu, Z J ^c   Wang, C R ^a   Li, H ^h   Pei, Z ^g   Shang, H F ^f   Zhang, B R ^e   Gu, W H ^d   Wu, Z Y ^c   Tang, B S ^a   Burgunder, J M ^a,f,g,i  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c FUDAN UNIVERSITY   (China)

^d CHINA JAPAN FRIENDSHIP HOSPITAL   (China)

^e ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^f SICHUAN UNIVERSITY   (China)

^g THE FIRST AFFILIATED HOSPITAL OF SUN YAT SEN UNIVERSITY   (China)

^h HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

ⁱ UNIVERSITY OF BERN   (Switzerland)

Author keywords

CAG repeats; China; Huntingtin gene; Huntington's disease; Normative data

Indexed keywords

HUNTINGTIN;

ALLELE; ARTICLE; CAG REPEAT; CHILDHOOD DISEASE; CHINESE; CHROMOSOME NUMBER; COMPARATIVE STUDY; CONTROLLED STUDY; GENETIC ANALYSIS; GENETIC RISK; GENETIC SCREENING; HEALTH CARE SURVEY; HUMAN; HUNTINGTON CHOREA; MAJOR CLINICAL STUDY; MULTICENTER STUDY; ONSET AGE; POPULATION RISK; PRIORITY JOURNAL; RISK ASSESSMENT;

CAG REPEATS; CHINA; HUNTINGTIN GENE; HUNTINGTON'S DISEASE; NORMATIVE DATA;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; GENE FREQUENCY; GENETIC TESTING; HUMANS; HUNTINGTON DISEASE; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; REFERENCE VALUES; TRINUCLEOTIDE REPEATS; YOUNG ADULT;

EID: 84897918971     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/ene.12366     Document Type: Article

References (37)

1. Novak MJ, Tabrizi SJ. Huntington's disease. BMJ 2010; 340: c3109.
2. Pringsheim T, Wiltshire K, Day L, Dykeman J, Steeves T, Jette N. The incidence and prevalence of Huntington's disease: a systematic review and meta-analysis. Mov Disord 2012; 27: 1083-1091.
3. Rawlins M. Huntington's disease out of the closet? Lancet 2010; 376: 1372-1373.
4. Evans SJ, Douglas I, Rawlins MD, Wexler NS, Tabrizi SJ, Smeeth L. Prevalence of adult Huntington's disease in the UK based on diagnoses recorded in general practice records. J Neurol Neurosurg Psychiatry 2013; 84: 1156-1160.
5. Warby SC, Visscher H, Collins JA, et al. HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia. Eur J Hum Genet 2011; 19: 561-566.
6. Leung CM, Chan YW, Chang CM, Yu YL, Chen CN. Huntington's disease in Chinese: a hypothesis of its origin. J Neurol Neurosurg Psychiatry 1992; 55: 681-684.
7. Zheng Z, Burgunder JM, Shang H, Guo X. Huntington's like conditions in China. A review of published Chinese cases. PLoS Curr 2012; 4: RRN1302.
8. Group THsDCR. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993; 26: 971-983.
9. Sequeiros J, Ramos EM, Cerqueira J, et al. Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population. Clin Genet 2010; 78: 381-387.
10. Langbehn DR, Brinkman RR, Falush D, Paulsen JS, Hayden MR. A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length. Clin Genet 2004; 65: 267-277.
11. Ha AD, Beck CA, Jankovic J. Intermediate CAG repeats in Huntington's disease: analysis of COHORT. Tremor Other Hyperkinet Mov (N Y) 2012; 2: PII: tre-02-64-287-4.
12. Wang CK, Wu YR, Hwu WL, et al. DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients. Eur Neurol 2004; 52: 96-100.
13. Warby SC, Montpetit A, Hayden AR, et al. CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am J Hum Genet 2009; 84: 351-366.
14. Squitieri F, Andrew SE, Goldberg YP, et al. DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence. Hum Mol Genet 1994; 3: 2103-2114.
15. Alonso ME, Ochoa A, Boll MC, et al. Clinical and genetic characteristics of Mexican Huntington's disease patients. Mov Disord 2009; 24: 2012-2015.
16. Wexler NS, Lorimer J, Porter J, et al. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci USA 2004; 101: 3498-3503.
17. Masuda N, Goto J, Murayama N, Watanabe M, Kondo I, Kanazawa I. Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease. J Med Genet 1995; 32: 701-705.
18. Kremer B, Goldberg P, Andrew SE, et al. A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. N Engl J Med 1994; 330: 1401-1406.
19. Chan V, Yu YL, Chan TP, et al. DNA analysis of Huntington's disease in southern Chinese. J Med Genet 1995; 32: 120-124.
20. Soong BW, Wang JT. A study on Huntington's disease associated trinucleotide repeat within the Chinese population. Proc Natl Sci Counc Repub China B 1995; 19: 137-142.
21. Rubinsztein DC, Amos W, Leggo J, et al. Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nat Genet 1994; 7: 525-530.
22. Myers RH. Huntington's disease genetics. NeuroRx 2004; 1: 255-262.
23. De Rooij KE, De Koning Gans PA, Skraastad MI, et al. Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range. J Med Genet 1993; 30: 996-1002.
24. Illarioshkin SN, Igarashi S, Onodera O, et al. Trinucleotide repeat length and rate of progression of Huntington's disease. Ann Neurol 1994; 36: 630-635.
25. Zuhlke C, Riess O, Schroder K, et al. Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin. Hum Mol Genet 1993; 2: 1467-1469.
26. Norremolle A, Riess O, Epplen JT, Fenger K, Hasholt L, Sorensen SA. Trinucleotide repeat elongation in the huntingtin gene in Huntington disease patients from 71 Danish families. Hum Mol Genet 1993; 2: 1475-1476.
27. Novelletto A, Persichetti F, Sabbadini G, et al. Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease. Hum Mol Genet 1994; 3: 93-98.
28. Shin C, Choi Y, Kim M, Jeon B. Preliminary analysis of Huntington's disease in South Korea. J Huntington's Dis 2013; 2: 83-87.
29. Killoran A, Biglan KM, Jankovic J, et al. Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS. Neurology 2013; 80: 2022-2027.
30. Chong SS, Almqvist E, Telenius H, et al. Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Hum Mol Genet 1997; 6: 301-309.
31. Claes S, Van Zand K, Legius E, et al. Correlations between triplet repeat expansion and clinical features in Huntington's disease. Arch Neurol 1995; 52: 749-753.
32. Trottier Y, Biancalana V, Mandel JL. Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. J Med Genet 1994; 31: 377-382.
33. Xing S, Chen L, Chen X, Pei Z, Zeng J, Li J. Excessive blinking as an initial manifestation of juvenile Huntington's disease. Neurol Sci 2008; 29: 275-277.
34. Liu ZJ, Sun YM, Ni W, Dong Y, Shi SS, Wu ZY. Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene. Clin Genet 2013; doi: 10.1111/cge.12120 [Epub ahead of print].
35. Liu Y, Shen Y, Li H, et al. Intergeneration CAG expansion in a Wuhan juvenile-onset Huntington disease family. Neuroscience Bull 2007; 23: 198-202.
36. Tang Y, Wang Y, Yang P, et al. Intergeneration CAG expansion and contraction in a Chinese HD family. Am J Med Genet B Neuropsychiatr Genet 2006; 141B: 242-244.
37. Quarrell OW, Handley O, O'Donovan K, et al. Discrepancies in reporting the CAG repeat lengths for Huntington's disease. Eur J Hum Genet 2012; 20: 20-26.