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NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients

15 Jul 2021

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the NOTCH3 gene. Archetypal disease-causing mutations are cysteine-affecting variants within the 34 epidermal growth factor-like repeat (EGFr) region of the Notch3 extracellular subunit. Cysteine-sparing variants and variants outside the EGFr coding region...

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PMID: 34335700
DOI: 10.3389/fgene.2021.705284

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