Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS.
Journal
Journal of human genetics
ISSN: 1435-232X
Titre abrégé: J Hum Genet
Pays: England
ID NLM: 9808008
Informations de publication
Date de publication:
May 2020
May 2020
Historique:
received:
08
09
2019
accepted:
03
02
2020
revised:
14
01
2020
pubmed:
19
2
2020
medline:
18
12
2020
entrez:
19
2
2020
Statut:
ppublish
Résumé
Recently, a recessively inherited intronic repeat expansion in replication factor C1 (RFC1) was identified in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS). Here, we describe a Japanese case of genetically confirmed CANVAS with autonomic failure and auditory hallucination. The case showed impaired uptake of iodine-123-metaiodobenzylguanidine and
Identifiants
pubmed: 32066831
doi: 10.1038/s10038-020-0733-y
pii: 10.1038/s10038-020-0733-y
doi:
Substances chimiques
RFC1 protein, human
0
Nedd4 Ubiquitin Protein Ligases
EC 2.3.2.26
Nedd4 protein, human
EC 2.3.2.26
Replication Protein C
EC 3.6.4.-
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
475-480Subventions
Organisme : MEXT | Japan Society for the Promotion of Science (JSPS)
ID : JP18K07503
Organisme : MEXT | Japan Society for the Promotion of Science (JSPS)
ID : JP19K07977
Organisme : MEXT | Japan Society for the Promotion of Science (JSPS)
ID : JP17K10080
Organisme : MEXT | Japan Society for the Promotion of Science (JSPS)
ID : JP19K17014
Organisme : MEXT | Japan Society for the Promotion of Science (JSPS)
ID : JP17H01539
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP19ek0109280
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP19dm0107090
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP19ek0109301
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP19ek0109348
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : JP18am0101108
Références
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