临床神经病学杂志2015，Vol.28Issue(5)：341-344,4.
伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病 NOTCH3 基因突变的研究(附 1 家系报告)
Study of NOTCH 3 gene mutation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ( report of 1 family)
王兴邦 1李娜 2赵新静 1刘爱芬 1单培彦 1麻琳 1江文静 1吴倩倩1
作者信息
- 1. 250012 济南,山东大学齐鲁医院保健神经内科
- 2. 山东中医药大学附属医院皮肤科
- 折叠
摘要
Abstract
Objective To analyze the scarce NOTCH3 gene mutation and diagnostic methods of a family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ( CADASIL) .Methods The clinical data of a CADASIL patient was retrospectively analyzed, and the family of this patient was investigated. Results The main clinical manifestations of this patient were repeated episodes of stroke and cognitive impairment. The NOTCT3 gene mutation of this patient and her sister were never found by Sanger sequencing at past.While high-throughput sequencing revealed that a heterozygous missense mutation in exon 20 of NOTCH3 gene( c.3226C>T) was found in the two patients.The 3 CADASIL patients in this family and their children were all carried this mutation gene.The pedigree investigation showed autosomal dominant inheritance.Conclusions The heterozygous missense mutation( c.3226C >T ) in exon 20 of NOTCH3 gene is the pathogenic factor for this family.High-throughput sequencing can find scarce mutant gene more comprehensively, and can reduce the missed diagnosis.关键词
伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病/小血管病/NOTCH3/基因突变/高通量测序Key words
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy/small vessel disease/NOTCH3/gene mutation/high-throughput sequencing分类
医药卫生引用本文复制引用
王兴邦,李娜,赵新静,刘爱芬,单培彦,麻琳,江文静,吴倩倩..伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病 NOTCH3 基因突变的研究(附 1 家系报告)[J].临床神经病学杂志,2015,28(5):341-344,4.
