Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 1.

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Fig. 1. Brain magnetic resonance imaging (MRI), pedigree, and results of genetic analysis from the proband. (A) Brain MRI revealed bilateral hyperintensities in the periventricular white matter, anterior temporal lobe, as well as the internal and external capsules. Multiple lacunar infarctions are noted in the deep white matter, basal ganglia, and thalamus on fluid-attenuated inversion recovery imaging. (B) Other family members did not complain of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy symptoms except for the proband and her younger sister. (C) The Sanger sequencing chromatogram reveals a nucleotide substitution from thymine to adenine at position 811 of the NOTCH3 gene (c.811T>A, p.Cys271Ser, NM_000435.2). (D) Cysteine at position 271 in the NOTCH3 protein is highly conserved throughout species.
Journal of Genetic Medicine 2022;19:38-41
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