Digenic Inheritance of PROKR 2 and WDR 11 Mutations in Pituitary Stalk Interruption Syndrome and Hormone Deficiencies

Methods: Whole exome sequencing (WES) was performed using standard techniques, with prioritized genetic variants confirmed via Sanger sequencing. To investigate the effects of one candidate variant on mutant WDR11 function, Western blotting and coimmunofluorescence were used to assess binding capacity, and Leptomycin B exposure along with immunofluorescence were used to assess nuclear localization.