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Brief Report

Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry

Lyndal Henden1 Macquarie University Motor Neuron Disease Research Centre, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, AustraliaORCID Iconhttps://orcid.org/0000-0001-5541-7637View further author information
ORCID Icon,
Liam G. Fearnley2 Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia;3 Department of Medical Biology, The University of Melbourne, Parkville, VIC, AustraliaORCID Iconhttps://orcid.org/0000-0003-2198-5411View further author information
ORCID Icon,
Dean Southwood1 Macquarie University Motor Neuron Disease Research Centre, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, AustraliaView further author information
,
Andrew Smith1 Macquarie University Motor Neuron Disease Research Centre, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, AustraliaView further author information
,
Dominic B. Rowe1 Macquarie University Motor Neuron Disease Research Centre, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, AustraliaORCID Iconhttps://orcid.org/0000-0003-0912-2146View further author information
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Matthew C. Kiernan4 Brain and Mind Centre, The University of Sydney, Sydney, NSW, Australia;5 Department of Neurology, Royal Prince Alfred Hospital, Sydney, NSW, AustraliaORCID Iconhttps://orcid.org/0000-0001-9054-026XView further author information
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Roger Pamphlett4 Brain and Mind Centre, The University of Sydney, Sydney, NSW, Australia;6 Discipline of Pathology, The University of Sydney, Sydney, NSW, Australia, and;7 Department of Neuropathology, Royal Prince Alfred Hospital, Sydney, NSW, AustraliaORCID Iconhttps://orcid.org/0000-0003-3326-7273View further author information
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Melanie Bahlo2 Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia;3 Department of Medical Biology, The University of Melbourne, Parkville, VIC, AustraliaORCID Iconhttps://orcid.org/0000-0001-5132-0774View further author information
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Ian P. Blair1 Macquarie University Motor Neuron Disease Research Centre, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, AustraliaORCID Iconhttps://orcid.org/0000-0003-3083-0075View further author information
ORCID Icon &
Kelly L. Williams1 Macquarie University Motor Neuron Disease Research Centre, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, AustraliaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0001-6319-9473View further author information
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Received 18 Dec 2023, Accepted 16 Apr 2024, Published online: 10 May 2024

References

  • Kume K, Kurashige T, Muguruma K, Morino H, Tada Y, Kikumoto M, et al. CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis. Am J Hum Genet. 2023;110:1086–97.
  • Kim WK, Liu X, Sandner J, Pasmantier M, Andrews J, Rowland LP, et al. Study of 962 patients indicates progressive muscular atrophy is a form of ALS. Neurology 2009;73:1686–92.
  • Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, et al. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat Genet. 2019;51:1222–32.
  • Kumutpongpanich T, Ogasawara M, Ozaki A, Ishiura H, Tsuji S, Minami N, et al. Clinicopathologic features of oculopharyngodistal myopathy with LRP12 CGG repeat expansions compared with other oculopharyngodistal myopathy subtypes. JAMA Neurol. 2021;78:853–63.
  • Shimizu T, Ishiura H, Hara M, Shibata S, Unuma A, Kubota A, et al. Expanded clinical spectrum of oculopharyngodistal myopathy type 1. Muscle Nerve. 2022;66:679–85.
  • Majounie E, Renton AE, Mok K, Dopper EGP, Waite A, Rollinson S, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study. Lancet Neurol. 2012;11:323–30.
  • Zou ZY, Zhou ZR, Che CH, Liu CY, He RL, Huang HP. Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2017;88:540–9.
  • Henden L, Fearnley LG, Grima N, McCann EP, Dobson-Stone C, Fitzpatrick L, et al. Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia. Sci Adv. 2023;9:eade2044.
  • Dolzhenko E, Deshpande V, Schlesinger F, Krusche P, Petrovski R, Chen S, et al. ExpansionHunter: A sequence-graph-based tool to analyze variation in short tandem repeat regions. Bioinformatics. 2019;35:4754–6.
  • Chen S, Francioli LC, Goodrich JK, Collins RL, Wang Q, Alfoldi J, et al. A genome-wide mutational constraint map quantified from variation in 76,156 human genomes. bioRxiv. 2022;

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