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Article

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

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Aug 2023

Hu Jinghan, Qian Jing, Che Zhihui, Tang Bin, Li Yan, Gong Qiang, Lu Xianzhen

Abstract excerpt

OBJECTIVES: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is the most common monogenic hereditary small cerebral vessel disease, which is caused by mutation of the neurogenic locus notch homolog protein 3 gene (NOTCH3). The exon 24 encodes EGF-like repeats, variants on this exon are rare. Here, we report a novel heterozygous variant c.3892 T >G (p....

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Identifiers

PMID: 37295172
DOI: 10.1016/j.jstrokecerebrovasdis.2023.107208

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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