MSX2
MIM.123101 5q34-q35
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#