A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

Ethylin Wang Jabs, Ulrich Müller, Xiang Li, Liang Ma, Wen Luo, Ian S. Haworth, Ivana Klisak, Robert Sparkes, Matthew L. Warman, John B. Mulliken, Malcolm L. Snead, Rob Maxson

Research output: Contribution to journalArticlepeer-review

Abstract

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 5qter. 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 MSX2 homeodomain exclusively in affected members. In the mouse, transcripts of the Msx2 gene are localized to calvarial sutures. These results provide compelling evidence that the mutation causes this craniosynostosis syndrome.

Original languageEnglish (US)
Pages (from-to)443-450
Number of pages8
JournalCell
Volume75
Issue number3
DOIs
StatePublished - Nov 5 1993

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

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