T-box genes in human disorders
Open Access
- 2 April 2003
- journal article
- review article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 12 (90001) , 37R-44
- https://doi.org/10.1093/hmg/ddg077
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.Keywords
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