Erschienen in:
01.10.2006 | Short Report
A novel mutation in the MSX2 homeobox gene of a family with foramina parietalia permagna, headache and vascular anomaly
verfasst von:
Michella Ghassibé, Vincent Bernier, Laurence M. Boon, Miikka Vikkula
Erschienen in:
European Journal of Pediatrics
|
Ausgabe 10/2006
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Excerpt
Enlarged parietal foramina (PFM, MIM 168500) are secondary to an ossification default of the parietal fontanelles. They are bilateral, situated on both sides of the sagittal suture. They can be more than 2 cm in diameter and are occasionally seen on a routine skull radiograph. They are of no pathological significance, but are clinically associated with headache, scalp defects and structural or vascular malformation of the brain [
4,
5]. A surgical intervention is sometimes required. PFM is caused by haploinsufficiency of the
ALX4 gene, being part of the DEFECT 11 syndrome (MIM 601224) [
2] or due to mutations in
MSX2 on
5q34-
q35.
MSX2 is an
MSX homeobox transcription factor.
MSX2 has been shown to be involved in craniofacial development. Msx2-deficient mice show defects of skull ossification and persistent calvarial foramen. Altogether, nine
MSX2 loss-of-function mutations have been reported [
1,
3,
6,
7]. …
