Craniosynostosis in <i>Twist</i> heterozygous mice: A model for Saethre‐Chotzen syndrome

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<jats:title>Abstract</jats:title><jats:p>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 <jats:italic>TWIST</jats:italic> gene. Mice heterozygous for a null mutation of the <jats:italic>Twist</jats:italic> gene replicate certain features of Saethre‐Chotzen syndrome, but have not been reported to exhibit craniosynostosis. We demonstrate that <jats:italic>Twist</jats:italic> heterozygous mice exhibit fusions of the coronal suture and other cranial suture abnormalities, indicating that <jats:italic>Twist</jats:italic> heterozygous mice constitute a better animal model for Saethre‐Chotzen syndrome than was previously appreciated. Anat Rec 268:90–92, 2002. © 2002 Wiley‐Liss, Inc.</jats:p>

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