Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation.
basic_science · Level V
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- Record sourced from PubMed, PMID 11941540.
- Also identified by PMC identifier 379143.
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Abstract
At least 40% of families affected with cerebral cavernous malformation have a mutation in Krit1. We previously identified two point mutations in Krit1 leading to changes in amino acids (D137G and Q210E) in two different families. Further RNA analysis reveals that both point mutations actually activate cryptic splice-donor sites, causing aberrant splicing and leading to a frameshift and protein truncation. To date, no simple missense mutations have been detected in Krit1.
Medical subject headings
- Alternative Splicing
- Brain
- Microtubule-Associated Proteins
- Mutation, Missense
- Proto-Oncogene Proteins
- RNA Splice Sites