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The CMT1A Duplication and HNPP Deletion

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Genomic Disorders

Abstract

The Charcot-Marie-Toothtype 1A (CMT1 A) duplication was the first recurrent, large (>1 Mb), submicroscopic DNA duplication rearrangement found to be associated with a common auto-somal dominant trait. Mechanistic studies of the CMT1A duplication have set the paradigm for genomic disorders. The CMT1A-REP low-copy repeats (LCRs) were among the first identified nongenic genomic architectural features that could act as substrates for nonallelic homologous recombination (NAHR). Identification of the predicted reciprocal recombination product, the hereditary neuropathy with liability to pressure palsies (HNPP) deletion, resulted in a model for reciprocal duplication/deletion genomic disorders.

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Authors and Affiliations

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

    Vincent Timmerman PhD

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

    James R. Lupski MD, PhD

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  1. 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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Timmerman, V., Lupski, J.R. (2006). The CMT1A Duplication and HNPP Deletion. In: Lupski, J.R., Stankiewicz, P. (eds) Genomic Disorders. Humana Press. https://doi.org/10.1007/978-1-59745-039-3_11

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  • DOI: https://doi.org/10.1007/978-1-59745-039-3_11

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