Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS-Reference-Cited by-同舟云学术

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Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS

Published:2020-02-18 Issue:5 Volume:65 Page:475-480
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Nakamura Haruko,Doi Hiroshi^ORCID,Mitsuhashi Satomi,Miyatake Satoko,Katoh Kazutaka,Frith Martin C.,Asano Tetsuya,Kudo Yosuke,Ikeda Takuya,Kubota Shun^ORCID,Kunii Misako,Kitazawa Yu,Tada Mikiko,Okamoto Mitsuo,Joki Hideto,Takeuchi Hideyuki,Matsumoto Naomichi,Tanaka Fumiaki^ORCID

Funder

MEXT | Japan Society for the Promotion of Science

Takeda Science Foundation

Japan Agency for Medical Research and Development

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-020-0733-y.pdf

Reference19 articles.

1. Szmulewicz DJ, Roberts L, McLean CA, MacDougall HG, Halmagyi GM, Storey E. Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Neurol Clin Pr. 2016;6:61–8.

2. Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, et al. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. Ann NY Acad Sci. 2011;1233:139–47.

3. Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, et al. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019;51:649–58.

4. Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, et al. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet. 2019;51:1215–21.

5. Mitsuhashi S, Frith MC, Mizuguchi T, Miyatake S, Toyota T, Adachi H, et al. Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads. Genome Biol. 2019;20:58.

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1. Streamlined two‐step fragment analysis PCR and exome sequencing of RFC1 for diagnostic testing of suspected CANVAS patients;Clinical Genetics;2024-07-10

2. Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis;The Lancet Neurology;2024-07

3. Another Common Genetic Ataxia in South Korea: Spinocerebellar ataxia 36;2024-06-07

4. RFC1: Motifs and phenotypes;Revue Neurologique;2024-05

5. Molecular Imaging in CANVAS: A Contribution for Differential Diagnosis?;Movement Disorders Clinical Practice;2024-04-04

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