Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

Authors
Mavrogiannis, LA Antonopoulou, I Baxova, A Kutilek, S Kim, CA Sugayama, SM Salamanca, A Wall, SA Morriss-Kay, GM Wilkie, AOM
Citation
La. Mavrogiannis et al., Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects, NAT GENET, 27(1), 2001, pp. 17-18
Citations number
15
Categorie Soggetti
Molecular Biology & Genetics
Journal title
NATURE GENETICS
ISSN journal
10614036 → ACNP
Volume
27
Issue
1
Year of publication
2001
Pages
17 - 18
Database
ISI
SICI code
1061-4036(200101)27:1<17:HOTHHG>2.0.ZU;2-Y
Abstract
Inherited defects of skull ossification often manifest as symmetric parieta l foramina (PFM; MIM 168500). We previously identified mutations of MSX2 in non-syndromic PFM and demonstrated genetic heterogeneity(1). Deletions of 11p11-p12 (proximal 11p deletion syndrome, P11pDS; MIM 601224; ref. 2) are characterized by multiple exostoses, attributable to haploinsufficiency of EXT2 (refs. 3,4) and PFM. Here we identify ALX4, which encodes a paired-rel ated homeodomain transcription factor, as the PFM disease gene in P11pDS.