Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL
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- dc.contributor.author Muiño, Elenaca
- dc.contributor.author Gallego-Fabrega, Cristinaca
- dc.contributor.author Cullell, Nataliaca
- dc.contributor.author Carrera, Catyca
- dc.contributor.author Torres, Nuriaca
- dc.contributor.author Krupinski, Jurekca
- dc.contributor.author Roquer, Jaumeca
- dc.contributor.author Montaner, Joanca
- dc.contributor.author Fernández-Cadenas, Israelca
- dc.date.accessioned 2018-06-06T07:33:20Z
- dc.date.available 2018-06-06T07:33:20Z
- dc.date.issued 2017
- dc.description.abstract CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is caused by mutations in the NOTCH3 gene, affecting the number of cysteines in the extracellular domain of the receptor, causing protein misfolding and receptor aggregation. The pathogenic role of cysteine-sparing NOTCH3 missense mutations in patients with typical clinical CADASIL syndrome is unknown. The aim of this article is to describe these mutations to clarify if any could be potentially pathogenic. Articles on cysteine-sparing NOTCH3 missense mutations in patients with clinical suspicion of CADASIL were reviewed. Mutations were considered potentially pathogenic if patients had: (a) typical clinical CADASIL syndrome; (b) diffuse white matter hyperintensities; (c) the 33 NOTCH3 exons analyzed; (d) mutations that were not polymorphisms; and (e) Granular osmiophilic material (GOM) deposits in the skin biopsy. Twenty-five different mutations were listed. Four fulfill the above criteria: p.R61W; p.R75P; p.D80G; and p.R213K. Patients carrying these mutations had typical clinical CADASIL syndrome and diffuse white matter hyperintensities, mostly without anterior temporal pole involvement. Cysteine-sparing NOTCH3 missense mutations are associated with typical clinical CADASIL syndrome and typical magnetic resonance imaging (MRI) findings, although with less involvement of the anterior temporal lobe. Hence, these mutations should be further studied to confirm their pathological role in CADASIL.
- dc.format.mimetype application/pdf
- dc.identifier.citation Muiño E, Gallego-Fabrega C, Cullell N, Carrera C, Torres N, Krupinski J. et al. Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL. Int J Mol Sci. 2017 Sep 13;18(9). pii: E1964. DOI: 10.3390/ijms18091964
- dc.identifier.doi http://dx.doi.org/10.3390/ijms18091964
- dc.identifier.issn 1422-0067
- dc.identifier.uri http://hdl.handle.net/10230/34835
- dc.language.iso eng
- dc.publisher MDPIca
- dc.relation.ispartof International Journal of Molecular Sciences. 2017 Sep 13;18(9):E1964
- dc.rights Copyright © 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
- dc.rights.accessRights info:eu-repo/semantics/openAccess
- dc.rights.uri http://creativecommons.org/licenses/by/4.0/
- dc.subject.keyword CADASIL
- dc.subject.keyword NOTCH3
- dc.subject.keyword Cysteine
- dc.subject.keyword Mutation
- dc.subject.other Cervell -- Malalties -- Tractament
- dc.title Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASILca
- dc.type info:eu-repo/semantics/article
- dc.type.version info:eu-repo/semantics/publishedVersion