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.
MeSH terms
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Alleles
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Alternative Splicing / genetics*
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Base Sequence
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Brain / abnormalities*
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Consensus Sequence / genetics
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Exons / genetics
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Female
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Frameshift Mutation / genetics
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Humans
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Introns / genetics
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KRIT1 Protein
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Male
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Microtubule-Associated Proteins*
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Mutation, Missense / genetics*
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Pedigree
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Proto-Oncogene Proteins / genetics*
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RNA Splice Sites / genetics*
Substances
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KRIT1 Protein
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KRIT1 protein, human
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Microtubule-Associated Proteins
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Proto-Oncogene Proteins
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RNA Splice Sites