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Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
L A Mavrogiannis1, I Antonopoulou, A Baxová
1Institute of Molecular Medicine, The John Radcliffe, Headington, Oxford, UK.
Nature Genetics
|January 4, 2001
Abstract:
Inherited defects of skull ossification often manifest as symmetric parietal foramina (PFM; MIM 168500). We previously identified mutations of MSX2 in non-syndromic PFM and demonstrated genetic heterogeneity. Deletions of 11p11-p12 (proximal 11p deletion syndrome, P11pDS; MIM 601224) are characterized by multiple exostoses, attributable to haploinsufficiency of EXT2 and PFM. Here we identify ALX4, which encodes a paired-related homeodomain transcription factor, as the PFM disease gene in P11pDS.