Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

Nat Genet. 2001 Jan;27(1):17-8. doi: 10.1038/83703.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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*
  • Skull / embryology
  • Transcription Factors / genetics

Substances

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

Associated data

  • GENBANK/AF294629
  • GENBANK/AJ279074
  • GENBANK/AJ279075
  • GENBANK/AJ279076
  • GENBANK/AJ279077
  • GENBANK/AJ404888