Human HOX gene mutations

Clin Genet. 2001 Jan;59(1):1-11. doi: 10.1034/j.1399-0004.2001.590101.x.


HOX genes play a fundamental role in the development of the vertebrate central nervous system, axial skeleton, limbs, gut, urogenital tract and external genitalia, but it is only in the last 4 years that mutations in two of the 39 human HOX genes have been shown to cause congenital malformations; HOXD13, which is mutated in synpolydactyly, and HOXA13, which is mutated in Hand-Foot-Genital syndrome. Here we review the mutations already identified in these two genes, consider how these mutations may act, and discuss the possibility that further mutations remain to be discovered both in developmental disorders and in cancer.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • DNA Mutational Analysis
  • Foot Deformities, Congenital / diagnostic imaging
  • Foot Deformities, Congenital / genetics*
  • Hand Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / genetics*
  • Homeodomain Proteins / genetics*
  • Humans
  • Mutation / genetics*
  • Phenotype
  • Polydactyly / diagnostic imaging
  • Polydactyly / genetics
  • Radiography
  • Transcription Factors*


  • HOXD13 protein, human
  • Homeodomain Proteins
  • Transcription Factors
  • homeobox protein HOXA13