Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.
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.
Mavrogiannis
L A
LA
Institute of Molecular Medicine, The John Radcliffe, Headington, Oxford, UK.
Antonopoulou
I
I
Baxová
A
A
Kutílek
S
S
Kim
C A
CA
Sugayama
S M
SM
Salamanca
A
A
Wall
S A
SA
Morriss-Kay
G M
GM
Wilkie
A O
AO
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
C416676:ALX4 protein, human; D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D011506:Proteins; D014157:Transcription Factors