PSEN2 and hereditary endocrine growth disease: Recent studies have indicated a beneficial effect of activating notch signaling in bone.49 Activation of notch in osteocytes can initiate a beneficial bone-building response in mature bones.50 Likewise, disruptions in notch signaling can lead to skeletal abnormalities and growth disorders, such as spondylocostal dysostosis and short-trunk dwarfism characterized by impaired vertebrae and ribs.51 In our study, we identified three genes within the notch signaling pathway: PSEN2, a feedback regulator on notch, exhibited notable downregulation.