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Human Molecular Genetics, 2000, Vol. 9, No. 8 1251-1255
© 2000 Oxford University Press

Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna

Wim Wuyts+, William Reardon1, Sabine Preis2, Tessa Homfray3, Alberto Rasore-Quartino4, Hans Christians5, Patrick J. Willems6 and Wim Van Hul

Department of Medical Genetics, Universiteitsplein 1, 2610 University of Antwerp, Belgium, 1Our Lady’s Hospital for Sick Children, Dublin, Ireland, 2Department of Pediatrics, Heinrich Heine University, Dusseldorf, Germany, 3St George’s Hospital, London, UK, 4Department of Pediatrics and Neonatology, Galliera Hospital, Genova, Italy, 5Neurology and Psychiatry Practice, Zweibrucken, Germany and 6Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands

Foramina parietalia permagna (FPP) is an autosomal dominant condition characterized by cranial defects of the parietal bones. It can be present as an isolated feature, but it is also one of the characteristics of a contiguous gene syndrome associated with deletions on chromosome 11p11–p12. One of the proteins known to be involved in skull development is the MSX2 homeobox protein. Previously, MSX2 has been shown to be mutated in patients suffering from Boston type craniosynostosis. We have now analyzed the MSX2 gene in five families affected with FPP. An intragenic microsatellite marker did not reveal any recombination and a cumulated LOD score of +3.2 at {theta} = 0 was obtained. Sequence analysis further showed that in four out of five families an MSX2 mutation was responsible for the skull defect. Moreover, it appears that FPP is caused by haplo­insufficiency of the MSX2 gene. This implies that Boston type craniosynostosis and FPP are allelic variants of the same gene, with FPP caused by loss of MSX2 function and craniosynostosis Boston type due to gain of MSX2 function.

+ To whom correspondence should be addressed. Tel: +32 3 820 2630; Fax: +32 3 820 2566; Email: wwuyts@uia.ua.ac.be


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