A Chinese CADASIL Family with a Novel Mutation on Exon 10 of Notch3 Gene.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is caused by the Notch3 gene mutation, has its unique clinical and imaging characteristics. Here we present a Chinese family with a novel mutation on exon 10 of Notch3 gene. Clinical and MRI data of the three patients in the family during the 7-year follow-up were collected. The CADASIL Scale Score was calculated to evaluate the disease risk of the three patients at their first admission or clinic visit. Five family members underwent genetic test. Genetic test confirmed the diagnosis of CADASIL in this family. A novel mutation of p.C533S on exon 10 of Notch3 gene was detected. The CADASIL score of the proband and her sister was both 17 and that of her brother was 14. Our report not only expands the mutation spectrum of Notch3 gene in CADASIL, but also shows the distinct heterogeneity of CADASIL patients in the same family with the same mutation. Copyright © 2021 Elsevier Inc. All rights reserved.

Citation

Yuan Liu, Shicun Huang, Liqiang Yu, Tan Li, Shanshan Diao, Zhiguo Chen, Guoqing Zhou, Xihua Sheng, Yuan Xu, Qi Fang. A Chinese CADASIL Family with a Novel Mutation on Exon 10 of Notch3 Gene. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association. 2021 Aug;30(8):105674

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PMID: 34119749

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