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Correspondence
Nature Genetics  15, 13 - 14 (1997)
doi:10.1038/ng0197-13

PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?

Eva Nelis1, Bengt Holmberg2, 3, Rolf Adolfsson4, Gösta Holmgren2 & Christine Van Broeckhoven1, 5

  1Neurogenetics Laboratory, Dept. of Biochemistry, University of Antwerp, Universiteitsplein 1,2610 Antwerpen, Belgium, Flanders Interuniversity Institute for Biotechnology (VIB), Born Bunge Foundation (BBS), University of Antwerp, Belgium.

  2Dept. of Neurology, University Hospital, Umeå, Sweden.

  3Dept. of Internal Medicine, Härnösand Hospital, Härnösand, Sweden.

  4Dept. of Psychiatry, University of Umeå, Sweden.

  5e-mail:cvbroeck@uia.ua.ac.be.


REFERENCES
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  2. Timmerman, V. et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nature Genet. 1, 171−175 (1992). | PubMed  | ISI | ChemPort |
  3. Pentao, L., Wise, C.A., Chinault, A.C., Patel, P.I. & Lupski, J.R. Charcot-Marie-tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nature Genet. 2, 292−300 (1992). | PubMed  | ISI | ChemPort |
  4. Nelis, E. et al. Estimation of the mutation frequencies in CMT1 and HNPP: a European collaborative study. Eur. J. Hum. Genet. 4, 25−33 (1996). | PubMed  | ISI | ChemPort |
  5. Windebank, A.J.. in Peripheral Neuropathy. 3rd vol. (eds Dyck, P.J., Thomas, P.K., Griffin, J.W., Low, P.A. & Poduslo, J.F.) 1137−1148 (W.B. Saunders Company, Philadelphia, 1993).
  6. Valentijn, L.J. et al. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nature Genet. 2, 288−291 (1992). | PubMed  | ISI | ChemPort |
  7. Roa, B.B. et al. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N. Engl. J. Med. 329, 96−101 (1993). | Article | PubMed  | ISI | ChemPort |
  8. Nelis, E., Timmerman, V., De Jonghe, P. & Van Broeckhoven, C. Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1. Hum. Mol. Genet. 3, 515−516 (1994). | PubMed  | ISI | ChemPort |
  9. Navon, R., Seifried, B., Gal-On, N.S. & Sadeh, M. A new point mutation affecting the fourth transmembrane domain of PMP-22 results in severe de novo Charcot-Marie-Tooth disease. Hum. Genet. 97, 685−687 (1996). | Article | PubMed  | ISI | ChemPort |
  10. Roa, B.B. et al. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1 A. Nature Genet. 5, 189−194 (1993). | PubMed  | ISI | ChemPort |
  11. Bathke, K.D. et al. The hemizygous Thr(118)Met amino acid exchange in peripheral myelin protein 22: recessive Charcot-Marie-Tooth (CMT) disease type 1 mutation or polymorphism? Am. J. Hum. Genet. 59, A248 (1996).
  12. Holmberg, B.H., Holmgren, G., Nelis, E., Van Broeckhoven, C. & Westerberg, B. Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication within chromosome 17p11. 2. J. Med. Genet. 31, 435−441 (1994). | PubMed  | ISI | ChemPort |
  13. Nelis, E. et al. Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies. Eur. J. Hum. Genet. in press.
  14. Kajiwara, K., Berson, E.L. & Dryja, T.P. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 264, 1604−1608 (1994). | PubMed  | ISI | ChemPort |
  15. Roa, B.B., Ananth, U., Garcia, C.A. & Lupski, J.R. Molecular diagnosis of CMT1A and HNPP. Lab. Medica International 12, 22−24 (1995).
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  17. Fabretti, E., Edomi, P., Brancolini, C. & Schneider, C. Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A. Genes Dev. 9, 1846−1856 (1995). | PubMed  | ISI | ChemPort |
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EISSN: 1546-1718
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