Gene expression profiling of Golabi-Ito-Hall derived lymphoblast cells compared to a matched healthy person

A point mutation in the WW domain of PQBP1 that mediates its interaction with SIPP1 causes the Golabi-Ito-Hall (GIH) syndrome, which is associated with severe mental retardation and physical deformations. In this project we compared lymphoblast cell lines from a healthy person and a patient with the GIH syndrome and we found that the interaction between SIPP1 and the PQBP1-Y65C mutant is strongly impaired and is associated with significant differences in the expression of numerous genes. Furthermore, our data show that the Y65C mutation in PQBP1 results in a deficiency of (alternative) splicing and in major effects on several epigenetic markers. Thus, we suggest that GIH syndrome is a splicing disease€™ and that both PQBP1 and SIPP1 play an important role in its etiology. Four replicates were obtained from one lymphoblast cell line derived from a patient with Golabi-Ito-Hall syndrome, labeled as GIH. Four replicates were obtained from one lymphoblast cell line derived from a matched healthy person and is indicated as control.