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Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation.


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.

SUBMITTER: Verlaan DJ 

PROVIDER: S-EPMC379143 | biostudies-literature | 2002 Jun

REPOSITORIES: biostudies-literature

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Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation.

Verlaan Dominique J DJ   Siegel Adrian M AM   Rouleau Guy A GA  

American journal of human genetics 20020408 6


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. ...[more]

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