Figure 1.
Sequencing of exon 5 (reverse strand, CCM1) of CV126 index patient showing mutation c.618_619delinsG.
Figure 2.
Quantitative MLPA analysis of (a) P130 and (b) P131 probemix (MRC Holland).
Black columns represent CV146 index patient and grey columns represent a healthy control. The deletion of exons 12 to 16 of CCM1 is shown.
Table 1.
Mutations identified within the CCM1 gene (NM_194455.1).
Figure 3.
Mutation analysis in the CV150 patient.
(a) Sequencing of exon 6 (CCM1 gene), which shows the A>G transition at position 842. (b) cDNA sequencing of exons 5 to 8 of a healthy subject and (c) the CV150 patient. A new 5′ splice site is created at the mutation site. The new splicing alters the open reading frame of exon 7 and generates a premature stop codon (p.Asp281GlyfsX5). (d) Diagram showing the cryptic splicing of exon 6 to exon 7 in the patient. Codons are shown in consecutive blue and black colour and premature stop codon in red colour. The arrow shows the novel donor splice site.
Table 2.
Mutations identified within the CCM2 gene (NM_031443.3).
Table 3.
Mutations identified within the CCM3 gene (NM_007217).
Table 4.
Clinical description of patients with mutations detected in CCM genes.