Data Management And Sharing System of China National Clinical Research Center for Neurological Diseases
A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation
First author：Yang, Chenlong
Corresponding author：Xu, Yulun
essential_information
- Person in charge：Yang, Chenlong
- Data Sources： OTHERS
- Number of papers：OTHERS20190755
- Published time：2018-01-01
2018-01-01
Published articles
Journal：Clin Neurol Neurosurg
Publication type: Case Report
IF(IF): 1.672
PMID: 29169046 Link To Pubmed Full text Download
Background And Purpose
Method
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.
Conclusion
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.