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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1997-01

AUTHORS

Quan Yi Li, Ruth A. Newbury-Ecob, Jonathan A. Terrett, David I. Wilson, Andrew R.J. Curtis, Cheong Ho Yi, Tom Gebuhr, Philip J. Bullen, Stephen C. Robson, Tom Strachan, Damien Bonnet, Stanislas Lyonnet, Ian D. Young, J. Alexander Raeburn, Alan J. Buckler, David J. Law, J. David Brook

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 Tbx5 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 TBX5 gene product. Tissue in situ hybridization studies on human embryos from days 26 to 52 of gestation reveal expression of TBX5 in heart and limb, consistent with a role in human embryonic development. More... »

PAGES

21-29

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng0197-21

    DOI

    http://dx.doi.org/10.1038/ng0197-21

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1040161535

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/8988164


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