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Updated: Jul 11, 2025
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
NOTCH3 Variants in Patients with Suspected CADASIL
Orhan Gorukmez1, Ozlem Gorukmez1, Ali Topak1
1Department of Medical Genetics, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.
Background:
Cerebral autosomal dominant arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) is the most common hereditary form of cerebral small vessel disease. It is clinically, radiologically, and genetically heterogeneous and is caused by NOTCH3 mutations.
Methods:
In this study, we analyzed NOTCH3 in 368 patients with suspected CADASIL using next-generation sequencing. The significant variants detected were reported along with the clinical and radiological features of the patients.
Results:
Heterozygous NOTCH3 changes, mostly missense mutations, were detected in 44 of the 368 patients (~12%).
Conclusions:
In this single-center study conducted on a large patient group, 30 different variants were detected, 17 of which were novel. CADASIL, which can result in mortality, has a heterogeneous phenotype among individuals in terms of clinical, demographic, and radiological findings regardless of the NOTCH3 variant.
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