Work

The skeletal abnormalities and their clinical challenges in SATB2-associated syndrome

Year: 2025

Type: article

Abstract: SATB2-associated syndrome (SAS) is an autosomal dominant genetic disorder caused by pathogenic variations in the special AT-rich sequence-binding protein 2 (SATB2) gene. In addition to neurodevelopmental and craniofacial defects, over 90% of patients with SAS manifest biochemical and/or radiographic skeletal abnormalities, and around one-third of patients report clinical and/or radiographic fractures. SATB2 protein is a potent transcription factor that promotes osteoblast differentiation and maturation; loss-of-function pathogenic variations of the SATB2 gene result in a wide spectrum of skeletal abnormalities ranging from gross skeletal anomalies to abnormal bone turnover markers, low BMD, and recurrent fractures. There is at present no known effective treatment for bone health in patients with SAS. We present an adult patient with SAS who has recurrent fractures despite long-term treatment with antiresorptive agents. We propose an alternative pharmacotherapy approach utilizing a PTH analog to stimulate osteoblasts, hence addressing the underlying pathophysiology of bone disease in patients with SAS.

Source: JBMR Plus

DOI: 10.1093/jbmrpl/ziaf023

Authors: Bryan Kuo, Marcy B Bolster, WuQiang Fan

Institution: Massachusetts General Hospital

Language: English

Topic: Bone Metabolism and Diseases

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,888