Craniosynostosis in Twist heterozygous mice:: A model for Saethre-Chotzen syndrome
Craniosynostosis in Twist heterozygous mice:: A model for Saethre-Chotzen syndrome
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DOI：
10.1002/ar.10124
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发表时间：
2002-10-01
影响因子：
--
通讯作者：
Gridley, T
中科院分区：
文献类型：
--
作者：
Carver, EA;Oram, KF;Gridley, T
saethree - chotzen综合征是一种常见的常染色体显性形式的颅缝闭闭，颅骨颅骨缝合线过早融合。大多数saethree - chotzen综合征病例是由TWIST基因的单倍体充足性引起的。Twist基因零突变的杂合小鼠复制saethree - chotzen综合征的某些特征，但没有报道显示颅缝闭锁。我们证明Twist杂合小鼠表现出冠状缝合线融合和其他颅缝合线异常，这表明Twist杂合小鼠比以前认为的更好地构成了saethree - chotzen综合征的动物模型。
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 haploin-sufficiency 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.