Patient CD5 with translocation t(9;17).
A) The pedigree of patient CD5 is indicated. The translocation is transmitted to his two sons (CD21 and CD22). B) Translocation between chromosome 9 and 17 were validated by Sanger sequencing in three translocation carriers. The reference sequence is indicated, showing the fusion of two genes at the genomic level: the first five exons of GNAQ fused to exon 3–14 of RBFOX3 and the first two exons of RBFOX3 fused to exon 6–7 of GNAQ. C) mRNA expression of GNAQ and RBFOX3 showed high expression in fetal brain, adult brain and cerebellum in human tissue panel.