Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome

Craig T. Basson; David R. Bachinsky; Robert C. Lin; Tatjana Levi; Jacob A. Elkins; Johann Soults; David Grayzel; Elena Kroumpouzou; Thomas A. Traill; Janine Leblanc-Straceski; Beatrice Renault; Raju Kucherlapati; J. G. Seidman; Christine E. Seidman

doi:10.1038/ng0197-30

Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome

Craig T. Basson, David R. Bachinsky, Robert C. Lin, Tatjana Levi, Jacob A. Elkins, Johann Soults, David Grayzel, Elena Kroumpouzou, Thomas A. Traill, Janine Leblanc-Straceski, Beatrice Renault, Raju Kucherlapati, J. G. Seidman, Christine E. Seidman

School of Medicine

Research output: Contribution to journal › Review article › peer-review

853 Scopus citations

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.

Original language	English (US)
Pages (from-to)	30-35
Number of pages	6
Journal	Nature genetics
Volume	15
Issue number	1
DOIs	https://doi.org/10.1038/ng0197-30
State	Published - Jan 1997

ASJC Scopus subject areas

Genetics

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title = "Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome",

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.",

author = "Basson, {Craig T.} and Bachinsky, {David R.} and Lin, {Robert C.} and Tatjana Levi and Elkins, {Jacob A.} and Johann Soults and David Grayzel and Elena Kroumpouzou and Traill, {Thomas A.} and Janine Leblanc-Straceski and Beatrice Renault and Raju Kucherlapati and Seidman, {J. G.} and Seidman, {Christine E.}",

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AU - Basson, Craig T.

AU - Bachinsky, David R.

AU - Lin, Robert C.

AU - Levi, Tatjana

AU - Elkins, Jacob A.

AU - Soults, Johann

AU - Grayzel, David

AU - Kroumpouzou, Elena

AU - Traill, Thomas A.

AU - Leblanc-Straceski, Janine

AU - Renault, Beatrice

AU - Kucherlapati, Raju

AU - Seidman, J. G.

AU - Seidman, Christine E.

PY - 1997/1

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N2 - 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.

AB - 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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Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome

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