Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome
Open Access
- 1 January 1997
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 15 (1) , 30-35
- https://doi.org/10.1038/ng0197-30
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.Keywords
This publication has 38 references indexed in Scilit:
- The Wingless Signaling Pathway Is Directly Involved inDrosophilaHeart DevelopmentDevelopmental Biology, 1996
- Molecular Pathways Controlling Heart DevelopmentScience, 1996
- Mouse Mutants and Cardiac DevelopmentCirculation Research, 1996
- A molecular pathway determining left-right asymmetry in chick embryogenesisCell, 1995
- Mechanisms of Cell Transformation in the Embryonic HeartAnnals of the New York Academy of Sciences, 1995
- The Clinical and Genetic Spectrum of the Holt-Oram Syndrome (Heart-Hand Syndrome)New England Journal of Medicine, 1994
- Prenatal DiagnosisNew England Journal of Medicine, 1993
- Holt-Oram-SyndromDeutsche Medizinische Wochenschrift (1946), 1993
- The Holt-Oram syndrome.Journal of Medical Genetics, 1991
- FAMILIAL HEART DISEASE WITH SKELETAL MALFORMATIONSHeart, 1960