FigureĀ 1.
Cytogenetic and molecular characterization of t(3;17)(q27;q21)/IGF2BP2::LSM12 in both patients. Chromosomes and metaphase-FISH of both patients show t(3;17)(q27;q21)/IGF2BP2::LSM12 fusion (left). Dashed line indicates the DNA and domain structure breakpoints (LSM12: NM_152344 and IGF2BP2: NM_006548.6) revealed after WGS and OGM in both patients. Breakpoints at IGF2BP2 affect RNA recognition motif 1. The RNA recognition motifs have high affinity for RNA, determining the binding capacities of the RNA-binding proteins (RBPs) to RNA, play a central role in the stability of IGF2BP-RNA complexes, and coordinate the interactions between the complex and other RBPs. Breakpoints at LSM12 affect anticodon binding domain (AD). Its function consists of binding the anticodon of transfer RNA (right). COOH, carboxylic acid; E, exon; NH3, ammonia.