CCND3 mutations in SDRPL. (A) Genes recurrently mutated in SDRPL cases. From left to right are written all genes harboring mutations in 2 or more patients. Colors represent the main function of each gene, assigned on the bases of the information compiled in the GeneCards and KEGG databases. (B) Schematic representation of the mapping of CCND3 variants detected in SDRPL patients. (C) Details of each variant. BCR, B-cell receptor; cDNA, complementary DNA; CDS, coding sequence.