Increased Transactivation Associated with<i>SOX</i>3 Polyalanine Tract Deletion in a Patient with Hypopituitarism

Abstract

This is the first study to report that PA tract deletions associated with hypopituitarism have functional consequences in vitro, possibly due to increased activation of SOX3 target genes. In addition, we have expanded the phenotypic spectrum associated with PA tract expansion (+7PA) mutations to include panhypopituitarism or isolated GH deficiency, with or without mental retardation.