Boston type craniosynostosis: Report of a second mutation in MSX2

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, whi...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2013-10, Vol.161A (10), p.2626-2633
Main Authors: 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.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Amino Acid Sequence
Base Sequence
Child
Child, Preschool
Codons
Craniosynostoses - diagnosis
Craniosynostoses - genetics
craniosynostosis
Female
Genetic Linkage
genome sequencing
Homeodomain Proteins - genetics
Humans
Infant
linkage analysis
Male
Middle Aged
Molecular Sequence Data
MSX2
Mutation
Pedigree
Phenotype
Radiography
Reproducibility of Results
Sequence Alignment
Sequence Analysis, DNA
Skull - diagnostic imaging
Skull - pathology
Young Adult
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Description
Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.36126