Article
Boston type craniosynostosis: report of a second mutation in MSX2.
American journal of medical genetics. Part A - 1 Oct 2013
Florisson Joyce M G, Verkerk Annemieke J M H, Huigh Daphne, Hoogeboom A Jeannette M, Swagemakers Sigrid, Kremer Andreas, Heijsman Daphne, Lequin Maarten H, Mathijssen Irene M J, van der Spek Peter J
Abstract excerpt
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...
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