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The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.

Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8

Ichinose, Yuta, Koh, Kishin, Fukumoto, Megumi, Yamashiro, Nobuo, Kobayashi, Fumikazu, Miwa, Michiaki, Nagasaka, Takamura, Shindo, Kazumasa, Ishiura, Hiroyuki, Tsuji, Shoji, Takiyama, Dr. Yoshihisa·2016·Clinical Neurology and Neurosurgery
DOI 10.1016/j.clineuro.2016.02.031
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Abstract

Exome sequencing revealed a novel missense mutation (c.2152G>A, p.E713K) in the KIAA0196 gene in a Japanese patient with SPG8. To date, only 10 mutations in the KIAA0196 gene have been reported in the world. We describe the clinical and genetic findings in our patient with SPG8, which is a rare dominant hereditary spastic paraplegia. Notably, our patient showed mild upper limb ataxia, which is a relatively atypical symptom of SPG8. Thus, our patient showed a wide clinical spectrum of SPG8.

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Crossref · 10.1016/j.clineuro.2016.02.031

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1 of 1 references verified0 citation errors · 0 not checkable

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  • Eight of eleven pathogenic SPG8 mutations are located in the central spectrin domain of strumpellin, and five of those are between residues 608 and 790.

    “Eight of eleven mutations identified in SPG8 patients localize to the spectrin-repeat domain, suggesting that this region could be particularly critical for SPG8 pathogenesis (8, 25, 32).”

    From Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion (2020) · cites this paper as [8]

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Research works printed but not linked: 4

  1. Jahic, 2014, A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8, J. Neurol. Sci., 347, 372, 10.1016/j.jns.2014.10.018 · DOI
  2. Neveling, 2013, A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases, Hum. Mutat., 34, 1721, 10.1002/humu.22450 · DOI
  3. Bettencourt, 2013, Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment, J. Neurol., 260, 2414, 10.1007/s00415-013-7044-6 · DOI
  4. Elliott, 2013, A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a first nations cohort, J. Med. Genet., 50, 819, 10.1136/jmedgenet-2013-101715 · DOI · Paper page

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Metadata

Authors
Ichinose, Y., Koh, K., Fukumoto, M., Yamashiro, N., Kobayashi, F., Miwa, M., Nagasaka, T., Shindo, K., Ishiura, H., Tsuji, S., & Takiyama, D. Y.
Venue
Clinical Neurology and Neurosurgery
Publisher
Elsevier BV
Published
2016-05
Volume
144
Pages
36-38
ISSN
0303-8467
DOI
10.1016/j.clineuro.2016.02.031
Cited by
11
References
1
Language
en
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Funders
Research Committee for Ataxic Diseases (YT) of the Ministry of Health, Labor and Welfare, Japan

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