Human Molecular Genetics, 2003, Vol. 12, Review Issue 1 R37-R44
DOI: 10.1093/hmg/ddg077
© 2003 Oxford University Press
T-box genes in human disorders
Institute of Genetics, University of Nottingham, Queen's Medical Centre, Nottingham, NG7 2UH, UK
Received December 4, 2002; Accepted December 19, 2002
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.
* To whom correspondence should be addressed. Tel: +44 1158493217; Fax: +44 1159709906; Email: David.Brook{at}nottingham.ac.uk
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