Abstract
Peripheral myelin protein22 (PMP22), a membrane glycoprotein, plays a significant role in the formation and/or maintenance of compact myelin in the peripheral nervous system. We studied two pedigrees with Dejerine-Sottas disease and identified two novel mutations in the PMP22 gene: one a 2-bp deletional mutation at nucleotide positions426 and 427 of exon4 (this is predicted to alter the reading frame at leucine80 and thus to lead to frame-shifted translation), and the other a guanine to thymine substitution at nucleotide position636 leading to a cysteine substitution for glycine150. Both mutations were located in the putative transmembrane domains reported in many cases of Charcot-Marie-Tooth neuropathy, Dejerine-Sottas disease, and hereditary neuropathy with liability to pressure palsies. The results suggest an important role for the putative transmembrane domains of PMP22 in its function.
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Received: 1 September 1997 / Accepted: 4 November 1997
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Ikegami, T., Ikeda, H., Aoyama, M. et al. Novel mutations of the peripheral myelin protein22 gene in two pedigrees with Dejerine-Sottas disease. Hum Genet 102, 294–298 (1998). https://doi.org/10.1007/s004390050694
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DOI: https://doi.org/10.1007/s004390050694