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Novel de novo DNMT1 gene mutation associated with hereditary sensory and autonomic neuropathy 1E (HSAN1E)

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Data Availability

The datasets generated during and/or analysed during the current study are available from the corresponding author on reasonable request.

References

  1. Klein CJ, Bird T, Ertekin-Taner N, Lincoln S, Hjorth R, Wu Y, Kwok J, Mer G, Dyck PJ, Nicholson GA (2013) DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. Neurology 80(9):824–828. https://doi.org/10.1212/WNL.0b013e318284076d

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I, McGrath NM, Beadell NC, Khoury J, Botuyan MV, Mer G, Worrell GA, Hojo K, DeLeon J, Laura M, Liu YT, Senderek J, Weis J, Van den Bergh P, Merrill SL, Reilly MM, Houlden H, Grossman M, Scherer SS, De Jonghe P, Dyck PJ, Klein CJ (2015) Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. Brain 138(Pt 4):845–861. https://doi.org/10.1093/brain/awv010

    Article  PubMed  PubMed Central  Google Scholar 

  3. Catania A, Peverelli L, Tabano S et al (2019) DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E). Neurol Sci 40:1963–1966. https://doi.org/10.1007/s10072-019-03859-7

    Article  PubMed  Google Scholar 

  4. Bi H, Hojo K, Watanabe M, Yee C, Maski K, Saba S, Graff-Radford J, Machulda MM, St Louis EK, Humes IS, Flanagan EP, Nicolau S, Jones DT, Patterson MC, Kotagal S, Raz Y, Niu Z, Li J, Klein CJ (2020) Expanded genetic insight and clinical experience of DNMT1-complex disorder. Neurol Genet 6(4):e456. https://doi.org/10.1212/NXG.0000000000000456

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Klein CJ, Benarroch EE (2014) Epigenetic regulation: basic concepts and relevance to neurologic disease. Neurology 82(20):1833–1840. https://doi.org/10.1212/WNL.0000000000000440

    Article  PubMed  Google Scholar 

  6. Yuan J, Higuchi Y, Nagado T, Nozuma S, Nakamura T, Matsuura E, Hashiguchi A, Sakiyama Y, Yoshimura A, Takashima H (2013) Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE. J Peripher Nerv Syst 18(1):89–93. https://doi.org/10.1111/jns5.12012

    Article  CAS  PubMed  Google Scholar 

  7. Coelho P, Oliveira SM (2020) First Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene. Neurol Sci 41(5):1289–1290. https://doi.org/10.1007/s10072-019-04179-6

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. 2nd Neurological University Department, American Hellenic Educational Progressive Association (AHEPA) General Hospital, Aristotle University of Thessaloniki (A.U.TH.), Stilp. Kyriakidi 1, 54636, Thessaloniki, Greece

    Dimitrios Parissis

  2. Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

    Kyproula Christodoulou

  3. Neuroscience Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

    Kleopas A. Kleopa

  4. Center for Neuromuscular Disorders, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

    Kleopas A. Kleopa

Authors
  1. Dimitrios Parissis
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  2. Kyproula Christodoulou
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  3. Kleopas A. Kleopa
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Correspondence to Dimitrios Parissis.

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Parissis, D., Christodoulou, K. & Kleopa, K.A. Novel de novo DNMT1 gene mutation associated with hereditary sensory and autonomic neuropathy 1E (HSAN1E). Neurol Sci 44, 2199–2201 (2023). https://doi.org/10.1007/s10072-023-06652-9

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  • DOI: https://doi.org/10.1007/s10072-023-06652-9

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