Dominique J. Verlaan, Adrian M. Siegel, Guy A. Rouleau

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Krit1 Missense Mutations Lead to Splicing Errors in Cerebral Cavernous Malformation Dominique J. Verlaan, Adrian M. Siegel, Guy A. Rouleau The American Journal of Human Genetics Volume 70, Issue 6, Pages 1564-1567 (June 2002) DOI: 10.1086/340604 Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 1 A, Pedigree of IFCAS-41. The blackened symbols denote affected individuals, and the unblackened square denotes an individual not known to be affected. Asterisks denote mutations, and the small unblackened circle denotes an absence of mutation. B, Genomic DNA sequences of unaffected (1) and affected (2) individuals. The affected individual carries an A→G substitution at nucleotide position 410 of the coding sequence. C, cDNA migration pattern of the normal (a) and mutated (b) alleles, for each member of the IFCAS family. D, cDNA sequences of the normal and mutated alleles. The mutated allele causes cryptic splicing, as is illustrated in the diagram. The American Journal of Human Genetics 2002 70, 1564-1567DOI: (10.1086/340604) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 2 A, Pedigree of IFCAS-28. Definitions of symbols are the same as in figure 1. B, Genomic DNA sequences of a normal (3) and affected (1) individuals. The affected individual carries a C→G substitution at nucleotide position 601 of the coding sequence. C, cDNA migration pattern of the normal (a) and mutated (b) alleles, for each member of the IFCAS family. D, cDNA sequences of the normal and mutated alleles. The mutated allele causes cryptic splicing, as is illustrated in the diagram. The American Journal of Human Genetics 2002 70, 1564-1567DOI: (10.1086/340604) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 3 Splice-donor site consensus sequence. The A→G substitution in IFCAS-41 changed the first nucleotide of the intron, whereas the C→G substitution in IFCAS-28 changed the third nucleotide of the intron. The American Journal of Human Genetics 2002 70, 1564-1567DOI: (10.1086/340604) Copyright © 2002 The American Society of Human Genetics Terms and Conditions