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Craniosynostosis, the premature fusion of calvarial sutures, is a common developmental anomaly that causes abnormal skull shape. The locus for one autosomal dominant form of craniosynostosis has been mapped to chromosome Bqter. The human MSX2 gene localizes to chromosome 5, and a polymorphic marker in the MSX2 intron segregates in a kindred with the disorder with no recombination. Moreover, a histidine substitutes for a highly conserved proline at position 7 of the MSXP homeodomain exclusively in affected members. In the mouse, transcripts of the MsxP gene are localized to calvarial sutures. These results provide compelling evidence that the mutation causes this craniosynostosis syndrome.