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a Department of
Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium, b St George's Hospital, London, UK, c Department of Paediatrics and
Neonatology, Galliera Hospital, Genova, Italy, d Department
of Radiology, University Hospital of Antwerp, Belgium
Correspondence to: Dr Wuyts, wwuyts{at}uia.ua.ac.be
Revised version received 29 September 2000;
Accepted for publication 2 October
2000
Foramina parietalia permagna (FPP) (OMIM 168500) is caused by
ossification defects in the parietal bones. Recently, it was shown that
loss of function mutations in the MSX2
homeobox gene on chromosome 5 are responsible for the presence of these
lesions in some FPP patients. However, the absence of
MSX2 mutations in some of the FPP patients
analysed and the presence of FPP associated with chromosome 11p
deletions in DEFECT 11 (OMIM 601224) patients or associated with
Saethre-Chotzen syndrome suggests genetic heterogeneity for this
disorder. Starting from a BAC/P1/cosmid contig of the DEFECT 11 region
on chromosome 11, we have now isolated the
ALX4 gene, a previously unidentified member
of the ALX homeobox gene family in humans.
Mutation analysis of the ALX4 gene in three unrelated FPP families without the MSX2
mutation identified mutations in two families, indicating that
mutations in ALX4 could be responsible for
these skull defects and suggesting further genetic heterogeneity of FPP.
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