Gene expression profiling in a VRK1 R358X homozygote patient. Homo sapiens

VRK1 mutations in humans cause a severe neuronal phenotype includung spinal muscular atrophy (SMA) and microcephaly. To study the effect of VRK1 R358X mutation on global gene expression in a homozygote human patient, an expression array was performed using EBV-trasformed B cells from the patient and two healthy controls Overall design: Gene expression was measured in EBV-transformed B cells from from a VRK1 R358X homozygote and two healthy controls.