Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome
CT Basson, DR Bachinsky, RC Lin, T Levi, JA Elkins… - Nature …, 1997 - nature.com
CT Basson, DR Bachinsky, RC Lin, T Levi, JA Elkins, J Soults, D Grayzel, E Kroumpouzou…
Nature genetics, 1997•nature.comHolt-Oram syndrome is characterized by upper limb malformations and cardiac septation
defects. Here, we demonstrate that mutations in the human TBX5 gene underlie this
disorder. TBX5 was cloned from the disease locus on human chromosome 12q24. 1 and
identified as a member of the T-box transcription factor family. A nonsense mutation in TBX5
causes Holt-Oram syndrome in affected members of one family; a TBX5 missense mutation
was identified in affected members of another. We conclude that TBX5 is critical for limb and …
defects. Here, we demonstrate that mutations in the human TBX5 gene underlie this
disorder. TBX5 was cloned from the disease locus on human chromosome 12q24. 1 and
identified as a member of the T-box transcription factor family. A nonsense mutation in TBX5
causes Holt-Oram syndrome in affected members of one family; a TBX5 missense mutation
was identified in affected members of another. We conclude that TBX5 is critical for limb and …
Abstract
Holt-Oram syndrome is characterized by upper limb malformations and cardiac septation defects. Here, we demonstrate that mutations in the human TBX5 gene underlie this disorder. TBX5 was cloned from the disease locus on human chromosome 12q24.1 and identified as a member of the T-box transcription factor family. A nonsense mutation in TBX5 causes Holt-Oram syndrome in affected members of one family; a TBX5 missense mutation was identified in affected members of another. We conclude that TBX5 is critical for limb and heart development and suggest that haploinsufficiency of TBX5 causes Holt-Oram syndrome.
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