Abstract
Charcot–Marie–Tooth disease 1A (CMT1A) is a hereditary demyelinating peripheral neuropathy, associated with a DNA duplication on chromosome 17p11.2. A related disorder in the mouse, trembler (Tr), maps to mouse chromosome 11 which has syntenic homology to human chromosome 17p. Recently, the peripheral myelin protein–22 (pmp–22) gene was identified as the likely Tr locus. We have constructed a partial yeast artificial chromosome contig spanning the CMT1A gene region and mapped the PMP–22 gene to the duplicated region. These observations further implicate PMP–22 as a candidate gene for CMT1A, and suggest that over–expression of this gene may be one mechanism that produces the CMT1A phenotype.
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Matsunami, N., Smith, B., Ballard, L. et al. Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A. Nat Genet 1, 176–179 (1992). https://doi.org/10.1038/ng0692-176
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DOI: https://doi.org/10.1038/ng0692-176
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