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KMID : 1189120220190010038
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대한의학유전학회지
2022 Volume.19 No. 1 p.38 ~ p.41
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A case of mild CADASIL patient with a novel heterozygous NOTCH3 variant
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Choi Woo-Chan
Hwang Yang-Ha
Lee Jong-Mok
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Abstract
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disease caused by mutations in the neurogenic locus notch homolog protein 3 (NOTCH3) gene. The spectrum of clinical manifestations is broad, ranging from asymptomatic to typical ischemic stroke, and mainly depends on the location of the mutations. We describe the case of a 76-year-old female without apparent neurological deficits. However, brain magnetic resonance imaging revealed confluent lesions in the white matter. Direct sequencing of the NOTCH3 gene revealed a novel pathogenic mutation, c.811T>A, which results in a mild phenotype. Therefore, this report will expand the current knowledge in regards to the mutations that can cause CADASIL.
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KEYWORD
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Leukoencephalopathy, Ischemic stroke, CADASIL
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