Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study

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dc.authoridSanli, Zeynep Selcan/0000-0001-6098-9920
dc.authorwosidSanli, Zeynep Selcan/JFB-5230-2023
dc.contributor.authorSanli, Zeynep Selcan
dc.contributor.authorAnlas, Ozlem
dc.date.accessioned2024-03-09T18:48:37Z
dc.date.available2024-03-09T18:48:37Z
dc.date.issued2023
dc.departmentİzmir Bakırçay Üniversitesien_US
dc.description.abstractIntroduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of familial cerebral small vessel disease in adults and is caused by NOTCH3 variants. Clinical manifestations of CADASIL include recurrent ischemic strokes, dementia, migraine or migraineous headaches, epileptic seizures, and psychiatric disorders. The clinical-radiological phenotype of the disease is also highly variable. In this study, we investigated the variability of clinical, radiological, and genetic data in patients analyzed for NOTCH3 variant in our clinic. Methods: We performed clinical and neuropsychological examination, cerebral magnetic resonance imaging (MRI) and Doppler sonography of cerebral arteries in all patients. Next-generation sequencing test was used for detect variants in NOTCH3 gene from all CADASIL patients. Results: By using the next-generation sequencing method, heterozygous c.380C>T pathogenic variant was detected in the 4th exon of the NOTCH3 gene in 3 patients. This is a previously unreported novel variant and resulted in the replacement of the amino acid Proline at 127th position with Leucine. Discussion and Conclusion: The discovery of this novel pathogenic variant region may contribute to the expansion of the clinical and genetic spectrum of diseases associated with NOTCH3, leading to further research and treatment options for this disease in the future.en_US
dc.identifier.doi10.1159/000534243
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.scopus2-s2.0-85175864132en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.urihttps://doi.org/10.1159/000534243
dc.identifier.urihttps://hdl.handle.net/20.500.14034/1408
dc.identifier.wosWOS:001089364700001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofMolecular Syndromologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectNotch3; Novel Variant; Exon; Next-Generation Sequencing; Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathyen_US
dc.titleDetecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Studyen_US
dc.typeArticleen_US

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