Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL

被引:64
作者
Muino, Elena [1 ]
Gallego-Fabrega, Cristina [1 ]
Cullell, Natalia [1 ]
Carrera, Caty [2 ]
Torres, Nuria [1 ]
Krupinski, Jurek [3 ]
Roquer, Jaume [4 ]
Montaner, Joan [2 ]
Fernandez-Cadenas, Israel [1 ]
机构
[1] Hosp Mutua Terrassa, Fundacio Docencia & Recerca Mutua Terrassa, Stroke Pharmacogen & Genet, Terrassa 08221, Spain
[2] Hosp Valle De Hebron, Neurovasc Res Lab, Vall dHebron Inst Res, Barcelona 08035, Spain
[3] Hosp Mutua Terrassa, Neurol Serv, Terrassa 08221, Spain
[4] Hosp Mar, IMIM, Inst Hosp Mar Invest Med, Neurol Serv, Barcelona 08003, Spain
关键词
CADASIL; cysteine; NOTCH3; mutation; temporal pole; AUTOSOMAL-DOMINANT ARTERIOPATHY; SUBCORTICAL INFARCTS; LEUKOENCEPHALOPATHY CADASIL; GENE; PATHOGENESIS; DIAGNOSIS; FAMILIES; RESIDUE; JAPAN; POLYMORPHISM;
D O I
10.3390/ijms18091964
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
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页数:13
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