AI Article Synopsis
- Cerebral cavernous malformation (CCM) is a type of vascular abnormality in the brain characterized by enlarged blood vessel cavities without supporting brain tissue.
- Genetic research has pinpointed three key genes linked to CCM, and a study of a four-generation family led to the discovery of a new mutation (c.1159C>T, p.Q387X) in the KRIT1 gene that causes premature termination of the protein.
- The findings enhance the understanding of the genetic causes of CCM and may improve approaches for diagnosing and treating the condition.
Article Abstract
Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system and mainly characterized by enlarged capillary cavities without intervening brain parenchyma. Genetic studies have identified three disease-causing genes (, and ) responsible for CCM. Here, we characterized a four-generation family diagnosed with CCM and identified a novel heterozygous mutation c.1159C>T, p.Q387X in gene by whole exome sequencing and Sanger sequencing. The Q387X mutation resulted in premature termination of KRIT1 protein, which was predicted to be deleterious by the ACMG/AMP 2015 guideline. Our results provide novel genetic evidence support that mutations cause CCM, and are helpful to the treatment and genetic diagnosis of CCM.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10174234 | PMC |
| http://dx.doi.org/10.3389/fonc.2023.1141488 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!