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Homozygous deletion of the human insulin receptor gene results in leprechaunism

Nature Genetics volume 5, pages 71–73 (1993)Cite this article

Abstract

Homozygous inactivation of a gene, as is frequently performed to generate mouse models, provides an opportunity to elucidate the role that the gene plays in normal physiology. However, studies of human disease provide direct insight into the effect of inactivating mutations in man. In this investigation, we have identified a one year–old boy from a consanguineous pedigree who is homozygous for deletion of the insulin receptor gene resulting in leprechaunism. Contrary to previous predictions, the complete deletion of the insulin receptor gene is compatible with life.

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Authors and Affiliations

  1. Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Bethesda, Maryland, 20892, USA

    Efrat Wertheimer, Su-Ping Lu & Simeon I. Taylor

  2. Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, 27399, USA

    Philippe F. Backeljauw & Marsha L. Davenport

Authors
  1. Efrat Wertheimer
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  2. Su-Ping Lu
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  3. Philippe F. Backeljauw
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  4. Marsha L. Davenport
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  5. Simeon I. Taylor
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Wertheimer, E., Lu, SP., Backeljauw, P. et al. Homozygous deletion of the human insulin receptor gene results in leprechaunism. Nat Genet 5, 71–73 (1993). https://doi.org/10.1038/ng0993-71

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