title: 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.affiliation: Institute of Molecular Medicine, The John Radcliffe, Headington, Oxford, UK.
authors.forename: L A
authors.initials: LA
authors.lastname: Mavrogiannis
authors.forename: I
authors.initials: I
authors.lastname: Antonopoulou
authors.forename: A
authors.initials: A
authors.lastname: Baxová
authors.forename: S
authors.initials: S
authors.lastname: Kutílek
authors.forename: C A
authors.initials: CA
authors.lastname: Kim
authors.forename: S M
authors.initials: SM
authors.lastname: Sugayama
authors.forename: A
authors.initials: A
authors.lastname: Salamanca
authors.forename: S A
authors.initials: SA
authors.lastname: Wall
authors.forename: G M
authors.initials: GM
authors.lastname: Morriss-Kay
authors.forename: A O
authors.initials: AO
authors.lastname: Wilkie
mesh_terms: D000818:Animals; D001483:Base Sequence; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D005091:Exons / Q000235:genetics; D005801:Genes, Homeobox / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010012:Osteogenesis / Q000235:genetics*; D010641:Phenotype; D020161:Physical Chromosome Mapping; D011506:Proteins / Q000235:genetics*; D012886:Skull / Q000002:abnormalities* / Q000196:embryology; D014157:Transcription Factors / Q000235:genetics
chemical_list: C416676:ALX4 protein, human; D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D011506:Proteins; D014157:Transcription Factors