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

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. Cys1298Gly) on exon 24 of NOTCH3 gene in a 57-year-old Chinese woman.

Source: Journal of Stroke and Cerebrovascular Diseases - June 7, 2023 Category: Neurology Authors: Jinghan Hu, Jing Qian, Zhihui Che, Bin Tang, Yan Li, Qiang Gong, Xianzhen Lu Tags: Case Report Source Type: research