Premium
Boston type craniosynostosis: Report of a second mutation in MSX2
Author(s) -
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.
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36126
Subject(s) - missense mutation , craniosynostosis , genetics , mutation , biology , gene
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.