Fig. 5

Clinical phenotype and functional validation of novel mutations of KIF1Bβ and CHD5. Characterization of KIF1Bβ I1355M variant in case 2707 T: A Sanger sequencing electropherogram, B contrast-enhanced CT scan demonstrating persistent but localized retroperitoneal tumor (asterisk), C immunoblot analysis and (D) crystal violet colony formation assay of wild type (WT) and I1335M mutant SK-N-AS and CHP212 neuroblastoma cells. Characterization of CHD5 E43Q variant in case 1073 T: E Sanger sequencing electropherogram, (F) photomicrographs of patient tumor demonstrating poorly differentiated neuroblastoma (asterisk) and extensive lymphovascular invasion (arrow) (H&E, 200x), G immunoblot of WT and E43Q-transfected SK-N-AS, CHP212 and NLF cells, and (H) crystal violet colony formation assay of the former. Western blots cropped and adjusted equally for brightness; full length unadjusted blots are presented in Additional File 3