Novel mutation of the NOTCH3 gene in a Polish family with CADASIL

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• 作者：Julia Buczek^a ; ^{jbuczek@ipin.edu.pl" class="auth_mail" title="E-mail the corresponding author} ; Beata Błażejewska-Hyżorek^a ; Agnieszka Cudna^a ; ^b ; Małgorzata Lusawa^c ; Eliza Lewandowska^d ; Iwona Kurkowska-Jastrzębska^a ; ^b ; Anna Członkowska^a ; ^b
• 关键词：Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ; NOTCH3 ; Novel mutation ; Phenotypic variability
• 刊名：Neurologia i Neurochirurgia Polska
• 出版年：2016
• 出版时间：July-August 2016
• 年：2016
• 卷：50
• 期：4
• 页码：262-264
• 全文大小：364 K

文摘

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small blood vessels disease caused by mutations in the gene encoding the neurogenic locus notch homolog protein 3 (NOTCH 3). We present a Polish family with a previously unreported novel mutation in exon 12 c.1851C>C/G of the NOTCH3 gene and varying disease expression. One of the two family members with the confirmed mutation presented with all the main CADASIL symptoms; while, his affected father was nearly asymptomatic. Both family members had epilepsy, coronary artery disease, and abdominal aorta aneurysm. Our observation confirms there is phenotypic variability in CADASIL not only between, but also within, families carrying the same mutation.