title: A novel Notch3 deletion mutation in a Chinese patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare autosomal dominant hereditary cerebrovascular disease characterised by migraine attacks, recurrent subcortical transient ischemic attacks or strokes, cognitive decline, and dementia. It is caused by mutations in the Notch3 gene on chromosome 19p13.1, which is the only gene currently known to be closely associated with CADASIL. We describe a novel 100 base pair base fragment deletion mutation (ENST 00000263388, c.512-611del) in the Notch3 gene from a Chinese patient with CADASIL. The present patient has the characteristic clinical and family history for CADASIL, which suggests that C.512del611 may be a cause of CADASIL as well as most of the previously reported Notch3 mutations.
authors.affiliation: The Affiliated Hospital of BinZhou Medical University, 661 HuangHe Second Road, BinZhou, Shandong 256600, China. byfyfwm@163.com
authors.forename: Fan
authors.initials: F
authors.lastname: Weiming
authors.forename: Wang
authors.initials: W
authors.lastname: Yuliang
authors.forename: Li
authors.initials: L
authors.lastname: Youjie
authors.forename: Liu
authors.initials: L
authors.lastname: Xinsheng
authors.forename: Xie
authors.initials: X
authors.lastname: Shuyang
authors.forename: Liu
authors.initials: L
authors.lastname: Zhaoxia
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D046589:CADASIL / Q000175:diagnosis / Q000235:genetics*; D002544:Cerebral Infarction / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch