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.
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.
Authors: Pam Ellis; B Matthew Fagan; Scott T Magness; Scott Hutton; Olena Taranova; Shigemi Hayashi; Andrew McMahon; Mahendra Rao; Larysa Pevny Journal: Dev Neurosci Date: 2004 Mar-Aug Impact factor: 2.984
Authors: Olena V Taranova; Scott T Magness; B Matthew Fagan; Yongqin Wu; Natalie Surzenko; Scott R Hutton; Larysa H Pevny Journal: Genes Dev Date: 2006-05-01 Impact factor: 11.361
Authors: Nicola K Ragge; Birgit Lorenz; Adele Schneider; Kate Bushby; Luisa de Sanctis; Ugo de Sanctis; Alison Salt; J Richard O Collin; Anthony J Vivian; Samantha L Free; Pamela Thompson; Kathleen A Williamson; Sanjay M Sisodiya; Veronica van Heyningen; David R Fitzpatrick Journal: Am J Med Genet A Date: 2005-05-15 Impact factor: 2.802
Authors: J Gubbay; J Collignon; P Koopman; B Capel; A Economou; A Münsterberg; N Vivian; P Goodfellow; R Lovell-Badge Journal: Nature Date: 1990-07-19 Impact factor: 49.962
Authors: P Cela; M Hampl; N A Shylo; K J Christopher; M Kavkova; M Landova; T Zikmund; S D Weatherbee; J Kaiser; M Buchtova Journal: J Dent Res Date: 2017-09-27 Impact factor: 6.116