Abstract
SATB2-associated syndrome (SAS, glass syndrome, OMIM#612313) is a neurodevelopmental autosomal dominant disorder with frequent craniofacial abnormalities including palatal and dental anomalies. To assess the role of Satb2 in craniofacial development, we analyzed mutant mice at different stages of development. Here, we show that Satb2 is broadly expressed in early embryonic mouse development including the mesenchyme of the second and third arches. Satb2-/- mutant mice exhibit microglossia, a shortened lower jaw, smaller trigeminal ganglia, and larger thyroids. We correlate these findings with the detailed clinical phenotype of four individuals with SAS and remarkable craniofacial phenotypes with one requiring mandibular distraction in childhood. We conclude that the mouse and patient data presented support less well-described phenotypic aspects of SAS including mandibular morphology and thyroid anatomical/functional issues.
Document Type
Article
Publication Date
2024
Digital Object Identifier (DOI)
https://doi.org/10.1111/cge.14540
Funding Information
This work was supported by NIH grant R15 DE026611 to JLF.
Repository Citation
Zarate, Yuri A.; Bosanko, Katherine; Derar, Nada; and Fish, Jennifer L., "Abnormalities in pharyngeal arch-derived structures in SATB2-associated syndrome" (2024). Pediatrics Faculty Publications. 325.
https://uknowledge.uky.edu/pediatrics_facpub/325
Notes/Citation Information
This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. © 2024 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.