title: Human HOX gene mutations.
abstract: 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.
authors.affiliation: Molecular Medicine Unit, Institute of Child Health, London, UK. fgoodman@hgmp.mrc.ac.uk
authors.forename: F R
authors.initials: FR
authors.lastname: Goodman
authors.forename: P J
authors.initials: PJ
authors.lastname: Scambler
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D004252:DNA Mutational Analysis; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D014157:Transcription Factors
chemical_list: C513184:HOXD13 protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors; C099959:homeobox protein HOXA13