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- Title
Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome.
- Authors
Zarate, Yuri A.; Bosanko, Katherine; Derar, Nada; Fish, Jennifer L.
- 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.
- Subjects
ARCHES; MANDIBLE; CRANIOFACIAL abnormalities; EMBRYOLOGY; SYNDROMES; HUMAN abnormalities; THYROTROPIN receptors
- Publication
Clinical Genetics, 2024, Vol 106, Issue 2, p209
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.14540