EMQN/CMGS best practice guidelines for the molecular genetic testing of huntington disease

European Journal of Human Genetics

Volumn 21, Issue 5, 2013, Pages 480-486

  Losekoot, Monique ^a   Van Belzen, Martine J ^a   Seneca, Sara ^b   Bauer, Peter ^c   Stenhouse, Susan A R ^d   Barton, David E ^e  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^d ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^e UNIVERSITY COLLEGE DUBLIN   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

ACCURACY; ALLELE; ARTICLE; BLOOD SAMPLING; CAG REPEAT; DNA DETERMINATION; DNA SEQUENCE; EXON; FALSE NEGATIVE RESULT; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUNTINGTON CHOREA; MOLECULAR GENETICS; NERVE DEGENERATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PATIENT REFERRAL; PENETRANCE; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK ASSESSMENT; SEGREGATION ANALYSIS; SENSITIVITY AND SPECIFICITY; SPERMATOGENESIS;

GENETIC MARKERS; GENETIC TESTING; HUMANS; HUNTINGTON DISEASE; MICROSATELLITE INSTABILITY; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; QUALITY ASSURANCE, HEALTH CARE; SENSITIVITY AND SPECIFICITY; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84876675051     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.200     Document Type: Article

References (47)

1. Bates GHPJL: Huntington's disease. 3 edn, Oxford, UK: Oxford University Press, 2002.
2. Pagon RA, Tarczy-Hornoch P, Baskin PK et al: GeneTests-GeneClinics: genetic testing information for a growing audience. Hum Mutat 2002; 19: 501-509. (Pubitemid 34461623)
3. Ross CA, Tabrizi SJ: Huntington's disease: from molecular pathogenesis to clinical treatment. Lancet Neurol 2011; 10: 83-98.
4. Alonso ME, Yescas P, Rasmussen A et al: Homozygosity in Huntington's disease: new ethical dilemma caused by molecular diagnosis. Clin Genet 2002; 61: 437-442. (Pubitemid 36372681)
5. Pruitt KD, Tatusova T, Maglott DR: NCBI Reference Sequence project: update and current status. Nucleic Acids Res 2003; 31: 34-37. (Pubitemid 36150328)
6. Lee J-M, Ramos EM, Lee J-H et al: CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology 2012; 78: 690-695.
7. Langbehn DR, Hayden MR, Paulsen JS: CAG repeat length and the age at onset in Huntington disease (HD): a review and validation study of statistical approaches. Am J Med Genet Part B 2010; 153B: 397-408.
8. 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. (Pubitemid 23356867)
9. Rubinsztein DC, Leggo J, Coles R et al: 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 1996; 59: 16-22. (Pubitemid 26189723)
10. Brinkman RR, Mezei MM, Theilmann J et al: The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet 1997; 60: 1202-1210. (Pubitemid 27194105)
11. Kenney C, Powell S, Jankovic J: Autopsy-proven Huntington's disease with trinucleotide repeats. Mov Disord 2007; 22: 127-130. (Pubitemid 46382686)
12. Groen JL, de Bie RMA, Foncke EMJ, Roos RAC, Leenders KL, Tijssen MAJ: Late-onset Huntington disease with intermediate CAG repeats: true or false? J Neurol Neurosurg Psychiatry 2010; 81: 228-230.
13. Andrich J, Arning L, Wieczorek S, Kraus PH, Gold R, Saft C: Huntington's disease as caused by 34 CAG repeats. Mov Disord 2008; 23: 879-881.
14. Herishanu YO, Parvari R, Pollack Y et al: Huntington disease in subjects from an Israeli Karaite community carrying alleles of intermediate and expanded CAG repeats in the HTT gene: Huntington disease or phenocopy? J Neurol Sci 2009; 277: 143-146.
15. McNeil SM, Novelletto A, Srinidhi J et al: Reduced penetrance of the Huntington's disease mutation. Hum Mol Genet 1997; 6: 775-779. (Pubitemid 27199071)
16. Quarrell OW, Rigby AS, Barron L et al: Reduced penetrance alleles for Huntington's disease: a multi centre direct observational study. J Med Genet 2007; 44: e68.
17. Semaka A, Creighton S, Warby S, Hayden MR: Predictive testing for Huntington disease: interpretation and significance of intermediate alleles. Clin Genet 2006; 70: 283-294. (Pubitemid 44323391)
18. 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.
19. Hendricks AE, Latourelle JC, Lunetta KL et al: Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG). Am J Med Genet A 2009; 149A: 1375-1381.
20. Goldberg YP, McMurray CT, Zeisler J et al: Increased instability of intermediate alleles 434 in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet 1995; 4: 1911-1918.
21. Myers RH, MacDonald ME, Koroshetz WJ et al: De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nat Genet 1993; 5: 168-173. (Pubitemid 23293453)
22. Van Belzen MJ, Belfroid RDM, Losekoot M, Walstra GJM, Van Langen IM: Maternal intermediate repeat expansion into the affected range in Huntington's disease. Clin Genet 2009; 76(Suppl 1): 1-127.
23. Goldberg YP, Kremer B, Andrew SE et al: Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat Genet 1993; 5: 174-179. (Pubitemid 23293454)
24. Crawford DC, Nickerson DA: Definition and clinical importance of haplotypes. Annu Rev Med 2005; 56: 303-320. (Pubitemid 40299785)
25. International Huntington Association (IHA) and the World Federation of Neurology (WFN) Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease. Neurology 1994; 44: 1533-1536.
26. Macleod R, Tibben A, Frontali M et al: Editorial committee working group, Genetic testing Counselling' of the European Huntington Disease Network. Recommendations for the predictive genetic test in Huntington's disease. Clin Genet 2012 'Accepetd Article' doi:10.1111/j.1399-0004.2012.01900.x.
27. Rij van MC, Rademaekers De M, Moutou C et al: Preimplantation Genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres. Eur J Hum Genet 2012; 20: 368-375.
28. Warner JP, Barron LH, Brock DJ: A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol Cell Probes 1993; 7: 235-239. (Pubitemid 23232244)
29. Andrew SE, Goldberg YP, Theilmann J et al: ACCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet 1994; 3: 65-67.
30. Quarerell 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.
31. Palomaki GE, Richards CS: Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey. Genet Med 2012; 14: 69-75.
32. Kalman L, Johnson MA, Beck J et al: Development of genomic reference materials for Huntington disease genetic testing. Genet Med 2007; 9: 719-723. (Pubitemid 350287158)
33. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease hromosomes. Cell 1993; 72: 971-983
34. OECD (Organization for Economic co-operation and development) guidelines for quality assurance in molecular genetic testing 2007 copy right OECD.
35. Maat-Schieman M, Roos R, Losekoot M et al: Neuronal intranuclear and neuropil inclusions for pathological assessment of Huntington's disease. Brain Pathol 2007; 17: 31-37.
36. Warner JP, Barron LH, Goudie D et al: A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 1996; 33: 1022-1026.
37. Gellera C, Meoni C, Castellotti B et al: Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene. Am J Hum Genet 1996; 59: 475-477. (Pubitemid 26266366)
38. Margolis RL, Stine OC, Callahan C et al: Two novel single-base-pair substitutions adjacent to the CAG repeat in the Huntington disease gene (IT15): implications for diagnostic testing. Am J Hum Genet 1999; 64: 323-326. (Pubitemid 30428992)
39. Warner JP, Barron LH, Brock DJ: A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol Cell Probes 1993; 7: 235-239. (Pubitemid 23232244)
40. Andrew SE, Goldberg YP, Theilmann J, Zeisler J, Hayden MR: A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet 1994; 3: 65-67.
41. Cross G, Pitt T, Sharif A, Bates G, Lehrach H: False-negative results for Huntington's disease mutation. The Lancet 1994; 343: 1232. (Pubitemid 24147583)
42. Yu S, Fimmel A, Fung D, Trent RJ: Polymorphisms in the CAG repeat-a source of error in Huntington disease DNA testing. Clin Genet 2000; 58: 469-472. (Pubitemid 32000749)
43. Williams LC, Hegde MR, Nagappan R et al: Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability. Genet Test 2000; 4: 55-60. (Pubitemid 30217742)
44. Potter NT, Spector EB, Prior TW: Technical standards and guidelines for Huntington disease testing. Genet Med 2004; 6: 61-65. (Pubitemid 38175981)
45. Langbehn DR, Brinkman RR, Falush D et al: 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. (Pubitemid 38443548)
46. Tagle DA, Blanchard-McQuate KL, Collins FS: Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S43 locus. Hum Mol Genet 1992; 1: 215.
47. Taylor SA, Barnes GT, MacDonald ME, Gusella JF: A dinucleotide repeat polymorphism at the D4S127 locus. Hum Mol Genet 1992; 1: 142.