571
Views
15
CrossRef citations to date
0
Altmetric
Research Article

Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study

, , , , , , , , , , , , , , , , , , , , , , , , , , , & show all
Pages 256-264 | Received 26 May 2016, Accepted 06 Nov 2016, Published online: 12 Dec 2016

References

  • Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257–68.
  • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245–56.
  • Fratta P, Polke JM, Newcombe J, Mizielinska S, Lashley T, Poulter M, et al. Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion. Neurobiol Aging. 2015;36:546.e1–7.
  • Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, et al. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet. 2013;21:102–8.
  • Sabatelli M, Conforti FL, Zollino M, Mora G, Monsurrò MR, Volanti P, et al. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiol Aging. 2012;33:1848.e15–20.
  • Nordin A, Akimoto C, Wuolikainen A, Alstermark H, Jonsson P, Birve A, et al. Extensive size variability of the GGGGCC-expansion in C9orf72 in both neuronal and non-neuronal tissue in 18 patients with ALS or FTD. Hum Mol Genet. 2015;24:3133–42.
  • van Blitterswijk M, DeJesus-Hernandez M, Niemantsverdriet E, Murray ME, Heckman MG, Diehl NN, et al. Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study. Lancet Neurol. 2013;12:978–88.
  • Pamphlett R, Cheong PL, Trent RJ, Yu B. Can ALS-associated C9orf72 repeat expansions be diagnosed on a blood DNA test alone? PLoS One. 2013;8:e70007.
  • Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, et al. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol. 2012;11:54–65.
  • Haeusler AR, Donnelly CJ, Periz G, Simko EA, Shaw PG, Kim MS, et al. C9orf72 nucleotide repeat structures initiate molecular cascades of disease. Nature. 2014;507:195–200.
  • Gendron TF, Bieniek KF, Zhang YJ, Jansen-West K, Ash PE, Caulfield T, et al. Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol. 2013;126:829–44.
  • Zu T, Liu Y, Bañez-Coronel M, Reid T, Pletnikova O, Lewis J, et al. RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc Natl Acad Sci USA. 2013;110:E4968–77.
  • Cooper-Knock J, Walsh MJ, Higginbottom A, Robin Highley J, Dickman MJ, Edbauer D, et al. Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions. Brain. 2014;137(Pt 7):2040–51.
  • Lee YB, Chen HJ, Peres JN, Gomez-Deza J, Attig J, Stalekar M, et al. Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic. Cell Rep. 2013;5:1178–86.
  • Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, et al. The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science. 2013;339:1335–8.
  • Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, et al. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron. 2013;77:639–46.
  • Mori K, Arzberger T, Grässer FA, Gijselinck I, May S, Rentzsch K, et al. Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. Acta Neuropathol. 2013;126:881–93.
  • Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, et al. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. J Med Genet. 2014;51:419–24.
  • van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Engelborghs S, et al. A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat. 2013;34:363–73.
  • Rollinson S, Bennion Callister J, Young K, Ryan SJ, Druyeh R, Rohrer JD, et al. A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD. Neurobiol Aging. 2015;36:1601.e1–5.
  • Snowden JS, Harris J, Adams J, Thompson JC, Richardson AM, Jones MS, et al. Psychosis associated with expansions in the C9orf72 gene: the influence of a 10 base pair gene deletion. J Neurol Neurosurg Psychiatry. 2016;87:562–3.
  • Cleary EM, Pal S, Azam T, Moore DJ, Swingler R, Gorrie G, et al. Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions. Mol Cell Probes. 2016;30:218–24.
  • Ishiura H, Takahashi Y, Mitsui J, Yoshida S, Kihira T, Kokubo Y, et al. C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. Arch Neurol. 2012;69:1154–8.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.