title: Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome.
abstract: Saethre-Chotzen syndrome is a common autosomal dominant form of craniosynostosis, the premature fusion of the sutures of the calvarial bones of the skull. Most Saethre-Chotzen syndrome cases are caused by haploinsufficiency for the TWIST gene. Mice heterozygous for a null mutation of the Twist gene replicate certain features of Saethre-Chotzen syndrome, but have not been reported to exhibit craniosynostosis. We demonstrate that Twist heterozygous mice exhibit fusions of the coronal suture and other cranial suture abnormalities, indicating that Twist heterozygous mice constitute a better animal model for Saethre-Chotzen syndrome than was previously appreciated.
authors.affiliation: Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.
authors.forename: Ethan A
authors.initials: EA
authors.lastname: Carver
authors.forename: Kathleen F
authors.initials: KF
authors.lastname: Oram
authors.forename: Thomas
authors.initials: T
authors.lastname: Gridley
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics* / Q000473:pathology; D000818:Animals; D004195:Disease Models, Animal; D005121:Extremities / Q000473:pathology; D006579:Heterozygote; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D009687:Nuclear Proteins; D012886:Skull / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*; D051879:Twist-Related Protein 1
chemical_list: D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D014157:Transcription Factors; D051879:Twist-Related Protein 1