T-box genes in human disorders.

Abstract

The T-box gene family encodes a large family of transcription factors with more than 20 members identified in humans so far, and homologues in many other organisms. A number of human disorders have been linked to mutations in T-box genes, confirming their medical importance. They include Holt- Oram syndrome/TBX5, Ulnar-Mammary syndrome/TBX3, and more recently DiGeorge syndrome/TBX1, ACTH deficiency/TBX19 and cleft palate with ankyloglossia/TBX22. This review describes the key features of these disorders and the involvement of T-box genes in their phenotype.

• Authors: Elizabeth A Packham, J David Brook
• Journal: Human molecular genetics (Hum Mol Genet) Vol. 12 Spec No 1 Pg. R37-44 (Apr 01 2003) ISSN: 0964-6906 [Print] England
• PMID: 12668595 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• T-Box Domain Proteins
• Adrenocorticotropic Hormone

Topics

• Adrenocorticotropic Hormone (deficiency)
• Animals
• Bone and Bones
• DiGeorge Syndrome (genetics)
• Humans
• Mice
• Models, Genetic
• Mutation
• Phenotype
• Syndrome
• T-Box Domain Proteins (genetics, metabolism, physiology)
• X-Rays