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MSX2

MIM.123101 5q34-q35

Saturday 14 May 2005

Pathology

- germline mutations in

  • Boston-type craniosynostosis (MIM.604757)
  • autosomal dominant enlarged parietal foramina (MIM.168500)
  • parietal foramina with cleidocranial dysplasia (MIM.168550)
  • myopia and hyperopia

- extra copy of MSX2 by trisomy 5q could lead to craniosynostoses (17955513)

References

- Wang JC, Steinraths M, Dang L, Lomax B, Eydoux P, Stockley T, Yong SL, Van Allen MI. Craniosynostosis associated with distal 5q-trisomy: Further evidence that extra copy of MSX2 gene leads to craniosynostosis. Am J Med Genet A. 2007 Oct 22; PMID: 17955513