Abnormalities in pharyngeal arch-derived structures in SATB2-associated syndrome.
Clin Genet
; 106(2): 209-213, 2024 Aug.
Article
en En
| MEDLINE
| ID: mdl-38693682
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.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Fenotipo
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Factores de Transcripción
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Región Branquial
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Proteínas de Unión a la Región de Fijación a la Matriz
Límite:
Animals
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Female
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Humans
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Male
Idioma:
En
Revista:
Clin Genet
Año:
2024
Tipo del documento:
Article
País de afiliación:
Estados Unidos