Conflict of interest: none.
Boston type craniosynostosis: Report of a second mutation in MSX2
Article first published online: 15 AUG 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 10, pages 2626–2633, October 2013
How to Cite
2013. Boston type craniosynostosis: Report of a second mutation in MSX2. Am J Med Genet Part A 161A:2626–2633., , , , , , , , , .
Florisson and Verkerk contributed equally to this work.
- Issue published online: 17 SEP 2013
- Article first published online: 15 AUG 2013
- Manuscript Accepted: 6 JUN 2013
- Manuscript Received: 4 AUG 2012
- Centre for Translational Molecular Medicine
- linkage analysis;
- genome sequencing
We describe a family that segregated an autosomal dominant form of craniosynostosis characterized by variable expression and limited extra-cranial features. Linkage analysis and genome sequencing were performed to identify the underlying genetic mutation. A c.443C>T missense mutation in MSX2, which predicts p.Pro148Leu was identified and segregated with the disease in all affected family members. One other family with autosomal dominant craniosynostosis (Boston type) has been reported to have a missense mutation in MSX2. These data confirm that missense mutations altering the proline at codon 148 of MSX2 cause dominantly inherited craniosynostosis. © 2013 Wiley Periodicals, Inc.