国家神经系统疾病临床医学研究中心数据管理与共享系统

Data Management And Sharing System of China National Clinical Research Center for Neurological Diseases

《国家中心数据管理与共享系统操作说明书 —— 研究者部分》

A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation

第一作者：Yang, Chenlong

通讯作者：Xu, Yulun

CCM1/KRIT1 DNA sequencing Familial cerebral cavern

基本信息

  • 负责人：Yang, Chenlong
  • 数据来源： OTHERS
  • 论文编号：OTHERS20190755
  • 发表时间：2018-01-01

2018-01-01

已发表文章

发表杂志：Clin Neurol Neurosurg

发表类型: Case Report

影响因子(IF): 1.672

PMID: 29169046 Pubmed原文链接 全文下载

主要研究背景及目的

方法

The proband is a 29-year-old female presenting with a 1-month history of headache. Brain magnetic resonance imaging (MRI) revealed multiple intracranial lesions, the largest one showing a popcorn-like appearance. After a 4-year conservative observation, there was no significant clinical or radiological progression. Family investigation found five of her relatives had multiple CCM lesions. DNA sequencing analysis in the proband disclosed a novel heterozygous deletion mutation (c.1919delT; p.Phe640SerfsX21) in exon 17 of the CCM1/KRIT1 gene. This mutation leads to a frameshift and is predicted to cause a premature termination codon to generate a truncated Krev interaction trapped-1 (Krit1) protein of 659 amino acids. The mutation segregated with the disease in the family.

结论

The current study identified a novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) associated with FCCM. Our findings expand the CCM gene mutation profiles in the Chinese population, which will be beneficial for genetic counseling.

主要结果