Krit1 Missense Mutations Lead to Splicing Errors in Cerebral Cavernous Malformation
Copyright policy )Krit1 Missense Mutations Lead to Splicing Errors in Cerebral Cavernous Malformation
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.
- ROYAL INSTITUTION FOR THE ADVANCEMENT OF LEARNING MCGILL UNIVERSITY Canada
- McGill University Finland
- University of Zurich Switzerland
- McGill University
- University Hospital of Zurich Switzerland
Male, Base Sequence, Mutation, Missense, Brain, Exons, Introns, Pedigree, Alternative Splicing, Proto-Oncogene Proteins, Consensus Sequence, Genetics, Humans, Genetics(clinical), Female, RNA Splice Sites, Frameshift Mutation, KRIT1 Protein, Microtubule-Associated Proteins, Alleles
Male, Base Sequence, Mutation, Missense, Brain, Exons, Introns, Pedigree, Alternative Splicing, Proto-Oncogene Proteins, Consensus Sequence, Genetics, Humans, Genetics(clinical), Female, RNA Splice Sites, Frameshift Mutation, KRIT1 Protein, Microtubule-Associated Proteins, Alleles
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