SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.

M MouilléM RioS BretonM L PikettyA AfenjarJ AmielY CapriA GoldenbergC FrancannetC MichotC MignotL PerrinC QuelinJ Van GilsG BarciaV PingaultG MaruaniE KoumakisValerie Cormier-Daire

Published in: Orphanet journal of rare diseases (2022)

We conclude that SATB2 pathogenic variants are responsible for skeletal demineralization and osteoporosis. We found increased levels of bone formation markers, supporting the key role of SATB2 in osteoblast differentiation. These results support the need for bone evaluation in children and adult patients with SATB2-associated syndrome (SAS).

Keyphrases

bone mineral density
end stage renal disease
ejection fraction
postmenopausal women
newly diagnosed
chronic kidney disease
bone regeneration
case report
prognostic factors
soft tissue
peritoneal dialysis
gene expression
copy number
patient reported outcomes