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  • Open Access

Using the talpid 2 as novel model for determining the cellular and molecular etiology of Oral-facial-digital syndrome

  • 1, 2,
  • 1, 2,
  • 1, 2,
  • 3 and
  • 1, 2
Cilia20154 (Suppl 1) :P41

  • Published:


  • Calcium
  • Developmental Biology
  • Crest
  • Cardiac Defect
  • Molar Tooth


Oral-facial-digital syndrome (OFD) is a ciliopathy characterized by craniofacial abnormalities including cleft lip/palate, glossal defects, and absent/dysmorphic or supernumerary teeth. In addition, these patients have several other abnormalities typical of a ciliopathy including polysyndactyly, hypoplasia of the cerebellar vermis (molar tooth sign), cardiac defects and polycystic kidneys. Recently a subset of OFD cases have been linked to mutations in the centriolar protein, calcium C2-dependent domain containing 3 (C2CD3). Interestingly, our previous work identified a mutation in C2CD3 as the causal genetic lesion for the avian talpid 2 mutant. Based on this common genetic etiology, we re-examined the talpid 2 mutant for OFD-like phenotypes. We found that almost all phenotypes are conserved between talpid 2 embryos and OFD patients. In light of this finding we utilized the talpid 2 to examine the cellular basis for the craniofacial phenotypes present in OFD.


Using both in vivo and in vitro methods we analyzed specification, migration, proliferation and differentiation of cranial neural crest cells (CNCC) when C2CD3-dependent ciliogenesis was impacted.


Our studies suggest that whereas disruptions of C2CD3-dependent ciliogenesis did not affect CNCC specification or proliferation, it did affect CNCC migration and differentiation. Migrating talpid 2 CNCCs were more disperse than control CNCCs and their migration was impaired. Furthermore, talpid 2 CNCC derived cartilages are larger relative to controls.


Taken together, these findings suggest that the avian talpid 2 mutant is a bona fide, novel model for OFD and that aberrant CNCC migration and differentiation could contribute to the pathology of C2CD3-dependent human OFD.

Authors’ Affiliations

Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
University of Cincinnati, Cincinnati, OH, USA


© Schock et al. 2015

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.