Homeobox genes and human genetic disorders.
Homeobox genes encode transcriptional regulators of embryonic development. Many genetic disorders affecting multiple organ systems have been associated with a diverse array of mutations in one or another of at least 27 different members of this gene family. We briefly describe the affected genes and the major phenotypes presented by the patients that carry the mutations. Although cause-and-effect relationships are difficult to prove in human genetics, there is little doubt that the observed mutations play a crucial role in the etiology of the associated disorders. The impressive wealth of collected data greatly benefits genetic counseling and stimulates efforts to develop novel avenues of targeted therapy.
Zhao
Yangu
Y
Laboratory of Mammalian Genes and Development, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-2790, USA.
Westphal
Heiner
H
D005801:Genes, Homeobox; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype