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Article

A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain.

Journal of the Chinese Medical Association : JCMA - 1 Jun 2013

Soong Bing-Wen, Liao Yi-Chu, Tu Pang-Hsien, Tsai Pei-Chien, Lee I-Hui, Chung Chih-Ping, Lee Yi-Chung

Abstract excerpt

BACKGROUND: Mutations in the TREX1 and NOTCH3 genes cause retinal vasculopathy with cerebral leukodystrophy (RVCL) and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), respectively. Both are hereditary small vessel diseases of the brain (HSVDB). METHODS: We performed mutational analyses of TREX1 in genomic DNA from 39 unrelated patients who were NOTCH3-negative...

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Source

Identifiers

PMID: 23602593
DOI: 10.1016/j.jcma.2013.03.002

Genes

TREX1
NOTCH3

Variants

Provenance

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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