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Article

Novel heterozygous NOTCH3 pathogenic variant found in two Chinese patients with CADASIL.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Dec 2017

Li Shufeng, Chen Yifan, Shan Haitao, Ma Fang, Shi Minke, Xue Jun

Abstract excerpt

NOTCH3 mutations have been described to cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Here, we report 2 CADASIL patients from a Chinese family. Whole genome sequencing was performed on the two CADASIL patients. The novel variant c.128G>C in exon 2 of NOTCH3 was identified and confirmed through PCR-Sanger sequencing (Human Genome Variation Society...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28867359
DOI: 10.1016/j.jocn.2017.08.029

Genes

NOTCH3
HTRA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Novel heterozygous NOTCH3 pathogenic variant found in two Chinese patients with CADASIL.PMID 28867359Read ↗

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