Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A (original) (raw)

References

  1. Charcot, J.-M. & Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6, 97–138 (1886).
    Google Scholar
  2. Tooth, H.H. The Peroneal Type of Progressive Muscular Atrophy (London, H.K. Lewis, 1886).
    Google Scholar
  3. Dyck, P.J., Chance, P., Lebo, R. & Carney, A.J. in Peripheral Neuropathy (eds Dyck, P.J., Thomas, P.K., Griffin, J.W., Low, PA & Poduslo, J.F.) 1094–1136 (W.B. Saunders, Philadelphia, 1992).
    Google Scholar
  4. Vance, J.M. Hereditary motor and sensory neuropathies. J. med. Genet. 28, 1–5 (1991).
    Article CAS PubMed PubMed Central Google Scholar
  5. Lupski, J.R., Garcia, C.A., Parry, G.J. & Patel, P.I. in Current Neurology (ed. Appel, S.) 1–25 (Mosby-Yearbook, Chicago, 1991).
    Google Scholar
  6. Lupski, J.R. An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy — Charcot-Marie-Tooth disease type 1 A. Clin. Res. 40, 645–652 (1992).
    CAS PubMed Google Scholar
  7. Lupski, J.R. & Garcia, C.A. Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A. Brain Path. 2(4), 337–349 (1992).
    Article Google Scholar
  8. Kaku, D.A., Parry, G.J., Malamut, R., Lupski, J.R. & Garcia, C.A. Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1. Neurology (in the press).
  9. Skre, H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin. Genet. 6, 98–118 (1974).
    Article CAS PubMed Google Scholar
  10. McKusick, V.A. Mendelian Inheritance in Man. (Johns Hopkins University Press, Baltimore, 1992).
    Google Scholar
  11. Vance, J.M. et al. Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp. Neurol. 104, 186–189 (1989).
    Article CAS PubMed Google Scholar
  12. Bird, T.D., Ott, J. & Gilblett, E.R. Evidence for linkage of Charcot-Marie-Tooth disease neuropathy to the Duffy locus on chromosome number 1. Am. J. Hum. Genet. 34, 388–394 (1982).
    CAS PubMed PubMed Central Google Scholar
  13. Lebo, R.V. et al. Multicolor fluorescence in situ hybridization and pulsed field electrophoresis dissect CMT1B gene region. Hum. Genet. 88, 13–20 (1991).
    Article CAS PubMed Google Scholar
  14. Chance, P.F. et al. Genetic linkage heterogeneity in type 1 Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type 1). Am. J. hum. Genet. 47, 915–925 (1990).
    CAS PubMed PubMed Central Google Scholar
  15. Chance, P.F., Matsunami, N., Lensch, W., Smith, B. & Bird, T.D. Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus. Neurology 42, 2037–2041 (1992).
    Article CAS PubMed Google Scholar
  16. Harding, A.E. & Thomas, P.K. Autosomal recessive forms of hereditary motor and sensory neuropathy. J. Neurol. Neurosurg. Psych. 43, 669–678 (1980).
    Article CAS Google Scholar
  17. Gabreels-Festen, A.A.W.M., Gabreels, F.J.M., Jennekens, F.G.I., Joosten, E.M.G. & Janssen-van Kempen, T.W. Autosomal recessive form of hereditary motor and sensory neuropathy type I. Neurology 42, 1755–1761 (1992).
    Article CAS PubMed Google Scholar
  18. Lupski, J.R. et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66, 219–232 (1991).
    Article CAS PubMed Google Scholar
  19. Raeymaekers, P. et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). Neuromusc. Dis. 1, 93–97 (1991).
    Article CAS PubMed Google Scholar
  20. Raeymaekers, P. et al. Estimation of the size of the chromosome 17p11.2 duplication Charcot-Marie-Tooth neuropathy type 1a (CMT1a). J. med. Genet. 29, 5–11 (1992).
    Article CAS PubMed PubMed Central Google Scholar
  21. Wise, C.A., Pentao, L., Garcia, C.A., Patel, P.I. & Lupski, J.R. Molecular analyses of unrelated Charcot-Marie-Tooth disease patients reveal a high frequency of the CMT1A duplication. Am. J. hum. Genet. 53, 853–863 (1993).
    CAS PubMed PubMed Central Google Scholar
  22. Pentao, L., Wise, C.A., Chinault, A.C., Patel, P.I. & Lupski, J.R. Charcot-Marie-Tooth type 1A tandem duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nature Genet. 2, 292–300 (1992).
    Article CAS PubMed Google Scholar
  23. Patel, P.I. et al. The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genet. 1, 159–165 (1992).
    Article CAS PubMed Google Scholar
  24. Valentijn, L.J. et al. The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nature Genet. 1, 166–170 (1992).
    Article CAS PubMed Google Scholar
  25. 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).
    Article CAS PubMed Google Scholar
  26. Matsunami, N. et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nature Genet. 1, 176–179 (1992).
    Article CAS PubMed Google Scholar
  27. Roa, B.B. et al. Charcot-Marie-Tooth disease type 1A: Association with a Spontaneous Point Mutation in the PMP22 Gene. New Engl. J. Med. 329, 96–101 (1993).
    Article CAS PubMed Google Scholar
  28. 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).
    Article CAS PubMed Google Scholar
  29. Chance, P.F. et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72, 143–151 (1993).
    Article CAS PubMed Google Scholar
  30. Windebank, A.J. in Peripheral Neuropathy (eds Dyck, P.J., Thomas, P.K., Griffin, J.W., Low, P.A. & Poduslo, J.F.) 1137–1148 (W.B. Saunders, Philadelphia, 1992).
    Google Scholar
  31. Cooper, D.N. & Krawczak, M. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum. Genet. 85, 55–74 (1990).
    Article CAS PubMed Google Scholar
  32. Snipes, G.J., Suter, U., Welcher, A.A. & Shooter, E.M. Characterization of a novel peripheral nervous system myelin protein (PMP–22/SR13). J. cell. Biol. 117, 225–238 (1992).
    Article CAS PubMed Google Scholar
  33. Suter, U. et al. The Trembler mouse carries a point mutation in a myelin gene. Nature 356, 241–244 (1992).
    Article CAS PubMed Google Scholar
  34. Suter, U. et al. A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the _trembler_-J mouse. Proc. natn Acad. Sci. U.S.A. 89, 4382–4386 (1992).
    Article CAS Google Scholar
  35. Lupski, J.R. et al. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nature Genet. 1, 29–33 (1992).
    Article CAS PubMed Google Scholar
  36. Chance, P.F. et al. Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: Evidence for gene dosage as a mechanism in CMT1A. Neurology 42, 2295–2299 (1992).
    Article CAS PubMed Google Scholar
  37. Upadhyaya, M. et al. Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2 12. Hum. Genet. 91, 392–394 (1993).
    Article CAS PubMed Google Scholar
  38. Roa, B.B. et al. in Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions (ed. Epstein, C.J)(Wiley-Liss, New York, in the press).
  39. Roa, B.B. & Lupski, J.R. Molecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition. Am. J. med. Sci. 306, 177–184 (1993).
    Article CAS PubMed Google Scholar
  40. Bickel, S. & Pirrotta, V. Self-association of the Drosophila zeste protein is responsible for transvection effects. EMBO J. 9, 2959–2967 (1990).
    Article CAS PubMed PubMed Central Google Scholar
  41. Muller, H.J. Further studies on the nature and causes of gene mutations. Proc. Int. Cong. Genet. 1, 213–255 (1932).
    Google Scholar
  42. Dyck, P.J. & Lambert, E.H. Lower motor and primary sensory neuron disease with peroneal muscular atrophy I. Neurologic, genetic and electrophysiological findings in hereditary polyneuropathies. Arch. Neurol. 18, 603–618 (1968).
    Article CAS PubMed Google Scholar
  43. Brust, J.C.M., Lovelace, R.E. & Devi, S. Clinical and electrodiagnostic features of Charcot-Marie-Tooth Syndrome. Acta. Neurologica. Scand. 58, 1–42 (1978).
    Article Google Scholar
  44. Davis, C.J.F., Bradley, W.G. & Madrid, R. The peroneal muscular atrophy syndrome: Clinical, genetic, electrophysiologic, and nerve biopsy studies. J. hum. Genet. 26, 311–349 (1978).
    CAS Google Scholar
  45. Dejerine, J. & Sottas, J. Sur la nevrite interstitielle, hypertrophique et progressive de l'enfance. Comptes Rendus de la Societe de Biologie Paris 45, 63–96 (1893).
    Google Scholar
  46. Allan, W. Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy. Arch. Intern. Med. 63, 1123–1131 (1939).
    Article Google Scholar
  47. Mclnnes, R.R. & Bascom, R.A. Retinal genetics: a nullifying effect for rhodopsin. Nature Genet. 1, 155–157 (1992).
    Article Google Scholar
  48. Rosenfeld, P.J. et al. A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nature Genet. 1, 209–213 (1992).
    Article CAS PubMed Google Scholar
  49. Patel, P.I. et al. Isolation of a marker linked to the Charcot-Marie-Tooth disease type 1A gene by differential Alu-PCR of human chromosome 17-retaining hybrids. Am. J. hum. Genet. 47, 926–934 (1990).
    CAS PubMed PubMed Central Google Scholar

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