Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Q Yi Li, RA Newbury-Ecob, JA Terrett, DI Wilson… - Nature …, 1997 - nature.com
Q Yi Li, RA Newbury-Ecob, JA Terrett, DI Wilson, ARJ Curtis, C Ho Yi, T Gebuhr, PJ Bullen…
Nature genetics, 1997nature.com
Holt-Oram syndrome is a developmental disorder affecting the heart and upper limb, the
gene for which was mapped to chromosome 12 two years ago. We have now identified a
gene for this disorder (HOS1). The gene (TBX5) is a member of the Brachyury (T) family
corresponding to the mouse TbxS gene. We have identified six mutations, three in HOS
families and three in sporadic HOS cases. Each of the mutations introduces a premature
stop codon in the TBXS gene product. Tissue in situ hybridization studies on human …
Abstract
Holt-Oram syndrome is a developmental disorder affecting the heart and upper limb, the gene for which was mapped to chromosome 12 two years ago. We have now identified a gene for this disorder (HOS1). The gene (TBX5) is a member of the Brachyury (T) family corresponding to the mouse TbxS gene. We have identified six mutations, three in HOS families and three in sporadic HOS cases. Each of the mutations introduces a premature stop codon in the TBXS gene product. Tissue in situ hybridization studies on human embryos from days 26 to 52 of gestation reveal expression of TBXS in heart and limb, consistent with a role in human embryonic development.
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