Boston type craniosynostosis: Report of a second mutation in MSX2
American Journal of Medical Genetics. Part A , Volume 161 - Issue 10 p. 2626- 2633
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.
|Craniosynostosis, Genome sequencing, Linkage analysis, MSX2|
|American Journal of Medical Genetics. Part A|
|Organisation||Department of Bioinformatics|
Florisson, J.M.G, Verkerk, A, Huigh, D, Hoogeboom, A.J.M, Swagemakers, S.M.A, Kremer, A, … van der Spek, P.J. (2013). Boston type craniosynostosis: Report of a second mutation in MSX2. American Journal of Medical Genetics. Part A, 161(10), 2626–2633. doi:10.1002/ajmg.a.36126