Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

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.

• Authors: L A Mavrogiannis, I Antonopoulou, A Baxová, S Kutílek, C A Kim, S M Sugayama, A Salamanca, S A Wall, G M Morriss-Kay, A O Wilkie
• Journal: Nature genetics (Nat Genet) Vol. 27 Issue 1 Pg. 17-8 (Jan 2001) ISSN: 1061-4036 [Print] United States
• PMID: 11137991 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• ALX4 protein, human
• DNA-Binding Proteins
• Homeodomain Proteins
• Proteins
• Transcription Factors

Topics

• Animals
• Base Sequence
• Craniofacial Abnormalities (genetics)
• DNA Mutational Analysis
• DNA-Binding Proteins
• Exons (genetics)
• Genes, Homeobox (genetics)
• Homeodomain Proteins (genetics)
• Humans
• Mice
• Molecular Sequence Data
• Mutation (genetics)
• Osteogenesis (genetics)
• Phenotype
• Physical Chromosome Mapping
• Proteins (genetics)
• Skull (abnormalities, embryology)
• Transcription Factors (genetics)