Abstract:
:Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant disorder with polydactyly and syndactyly of the limbs and a broad spectrum of craniofacial abnormalities. Craniosynostosis of the metopic suture (interfrontal suture in mice) is an important but rare feature associated with GCPS. GCPS is caused by mutations in the transcription factor GLI3, which regulates Hedgehog signaling. The Gli3 loss-of-function (Gli3(Xt-J/Xt-J)) mouse largely phenocopies the human syndrome with the mice exhibiting polydactyly and several craniofacial abnormalities. Here we show that Gli3(Xt-J/Xt-J) mice exhibit ectopic ossification in the interfrontal suture and in the most severe cases the suture fuses already prior to birth. We show that abnormalities in frontal bones occur early in calvarial development, before the establishment of the interfrontal suture. It provides a model for the metopic suture pathology that can occur in GCPS.
journal_name
Front Physioljournal_title
Frontiers in physiologyauthors
Veistinen L,Takatalo M,Tanimoto Y,Kesper DA,Vortkamp A,Rice DPdoi
10.3389/fphys.2012.00121subject
Has Abstractpub_date
2012-05-03 00:00:00pages
121issn
1664-042Xjournal_volume
3pub_type
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