ArticleJournal of clinical laboratory analysis2021
A case of CADASIL caused by NOTCH3 c.512_605delinsA heterozygous mutation.
Article in Journal of clinical laboratory analysis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 5 citations in OpenAlex.
- Small Vessel Disease Phenotype Associated With MonoallelicNeurology · 2025Observational
- The pathogenesis of cerebral small vessel disease and vascular cognitive impairment.Physiological reviews · 2025Review
- Genetic Mechanisms of Migraine: Insights from Monogenic Migraine Mutations.International journal of molecular sciences · 2023Review
- A case of CADASIL caused by NOTCH3 c.512_605delinsA heterozygous mutation.Journal of clinical laboratory analysis · 2021Article
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9 authors at 1 institution in 1 country.
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Abstract
backgroundAutosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebrovascular disease closely related to the NOTCH3 gene. More than 200 mutations in this gene have been reported to be associated with this disease.
methodsThe NOTCH3 gene from CADASIL patient was screened for mutations by whole-exome sequencing (WES). PCR amplification and direct Sanger sequencing were used to verify the suspicious gene mutation sites detected by WES.
resultsWe performed second-generation sequencing on a sample of the patient's genome and found a heterozygous deletion-insertion mutation c.512_605delinsA in exon 4 of NOTCH3, which resulted in amino acid changes p.G171_A202delinsE. This variation was confirmed by the direct Sanger sequencing. It may be rated as a CADASIL clinical variation.
conclusionDiscovery of this mutation site provides an important theoretical basis for specific gene-based diagnosis and treatment of CADASIL.
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