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Cleft Palate in a Mouse Model of SOX2 Haploinsufficiency
Objective:
While SEX-determining region Y-Box 2 (SOX2) mutations are typically recognized as yielding ocular and central nervous system abnormalities, they have also been associated with other craniofacial defects. To elucidate the genesis of the latter, Sox2 hypomorphic (Sox2(HYP)) mice were examined, with particular attention to secondary palatal development.
Results:
Clefts of the secondary palate were found to be highly penetrant in Sox2(HYP) mice. The palatal clefting occurred in the absence of mandibular hypoplasia and resulted from delayed or failed shelf elevation.
Conclusions:
Sox2 hypomorphism can result in clefting of the secondary palate, an effect that appears to be independent of mandibular hypoplasia and is thus expected to result from an abnormality that is inherent to the palatal shelves and/or their progenitor tissues. Further clinical attention relative to SOX2 mutations as a basis for secondary palatal clefts appears warranted.
Insights
SOX2 mutations can cause secondary palate clefting in mice. This occurs independently of jaw development, suggesting a direct impact on palate tissues.
Area of Science:
- Developmental biology
- Genetics
- Craniofacial development
Background:
- SOX2 mutations are linked to ocular and CNS abnormalities.
- SOX2 mutations have also been associated with craniofacial defects.
- The specific mechanisms causing craniofacial defects require further investigation.
Purpose of the Study:
- To investigate the role of SOX2 in secondary palatal development.
- To elucidate the genesis of craniofacial defects associated with SOX2 mutations.
Main Methods:
- Examination of Sox2 hypomorphic (Sox2(HYP)) mice.
- Focus on secondary palatal development in these mice.
Main Results:
- Secondary palatal clefts were highly penetrant in Sox2(HYP) mice.
- Palatal clefting resulted from delayed or failed shelf elevation.
- Clefting occurred without mandibular hypoplasia.
Conclusions:
- Sox2 hypomorphism can cause secondary palate clefting.
- This effect is independent of mandibular hypoplasia.
- Abnormalities inherent to palatal shelves or progenitor tissues likely cause clefting.
- Clinical attention to SOX2 mutations as a cause of secondary palatal clefts is warranted.
