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Article

Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL.

Genes - 28 Aug 2023

Bostanova Fatima, Tsygankova Polina, Nagornov Ilya, Dadali Elena, Bessonova Lyudmila, Kulesh Aleksey, Drobakha Viktor, Danchenko Irina, Kanivets Ilya, Zakharova Ekaterina

Abstract excerpt

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease with unknown mechanisms and a broad phenotypic spectrum. It is caused by pathogenic variants in the NOTCH3 gene. The symptoms of the disease mainly include recurrent strokes with vascular risk factors, migraine with aura, dementia, and mood disturbances. CASE PRESENTATION:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37761855
DOI: 10.3390/genes14091715
PMCID: PMC10531103

Genes

NOTCH3

Variants

Provenance

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Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL.PMID 37761855Read ↗

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A novel heterozygous mutation in the NOTCH3 gene causing CADASIL.Semantic proximity Read ↗

A novel report of Cys1298Gly mutation in exon 24 of NOTCH3 gene in a Chinese family with CADASIL.Semantic proximity Read ↗

Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.Semantic proximity Read ↗

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Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

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