LangerGiedion syndrome occurs when an entire gene (8q23.2q24.1) is missing and includes the TRPS1 gene (encodes a GATA-like transcription factor).
The missing portion of the chromosome is 8q23.2q24.1. This region includes the genes TRPS1 and EXT1. This gene encodes a GATA-like transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. 
