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The CMT1A Duplication

A Historical Perspective Viewed From Two Sides of an Ocean

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Genomic Disorders

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Abstract

I came to Houston, Texas in 1986 with one goal being to identify “the gene” for Charcot-Marie-Tooth (CMT) disease. I was peripherally aware of the paper by Botstein and colleagues (1) proposing the genetic mapping of human “disease genes” using linked restriction fragment length polymorphisms (RFLPs) to position the gene within the human genome and indeed became very excited as a graduate student when Gusella’ s paper (2) appeared in Nature linking the Huntington disease locus to markers on chromosome 4. It was a natural extension to think this “positional cloning“ approach might be applied to a host of other human traits. There was apersonal, one might say egocentric, reason to choose CMT because I have the disease (3) and, in fact, the first blood samples collected for DNA linkage studies were from my own family wherein CMT segregated as an apparent autosomal recessive trait.

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Author information

Authors and Affiliations

  1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

    James R. Lupski MD, PhD

  2. Department of Pediatrics, Baylor College of Medicine, Houston, TX

    James R. Lupski MD, PhD

  3. Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium

    Vincent Timmerman PhD

Authors
  1. James R. Lupski MD, PhD
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  2. Vincent Timmerman PhD
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Editors and Affiliations

  1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

    James R. Lupski MD, PhD  & Pawel Stankiewicz MD, PhD  & 

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© 2006 Humana Press Inc., Totowa, NJ

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Lupski, J.R., Timmerman, V. (2006). The CMT1A Duplication. In: Lupski, J.R., Stankiewicz, P. (eds) Genomic Disorders. Humana Press. https://doi.org/10.1007/978-1-59745-039-3_1

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  • DOI: https://doi.org/10.1007/978-1-59745-039-3_1

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-559-0

  • Online ISBN: 978-1-59745-039-3

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