Charcot-Marie-Tooth Disease: Lessons in Genetic Mechanisms (original) (raw)

• Charcot J-M, Marie P. (1886) Sur une forme particulaiere d’atrophie musculaire progressive souvent familiale debutant par les pied et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97–138.
  Google Scholar
• Tooth H. (1886) The Peroneal Type of Progressive Muscular Atrophy. H. K. Lewis, London.
  Google Scholar
• Allan W. (1939) Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy. Arch. Intern. Med. 63: 1123–1131.
  Article Google Scholar
• Dyck PJ, Chance P, Lebo R, Carney JA. (1993) Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds). Peripheral Neuropathy. W. B. Saunders, Philadelphia, pp. 1094–1.
  Google Scholar
• Bird TD, Ott J, Giblett ER. (1982) Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am. J. Hum. Genet. 34: 388–394.
  PubMed PubMed Central CAS Google Scholar
• Gal A, Mucke J, Theile H, Wieacker PF, Ropers H-H, Wienker TF. (1985) X-linked dominant Charcot-Marie-Tooth disease: Suggestions of linkage with a cloned DNA sequence from the proximal Xq. Hum. Genet. 70: 38–42.
  Article CAS PubMed Google Scholar
• Vance JM, Nicholson GA, Yamaoka LH, et al. (1989) Linkage of Charcot-Marie-Tooth neuropathy type la to chromosome 17. Exp. Neurol. 104: 186–189.
  Article CAS PubMed Google Scholar
• Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, et al. (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66: 219–232.
  Article CAS PubMed Google Scholar
• Raeymaekers P, Timmerman V, Nelis E, et al. (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type la (CMTla). Neuromuscul. Disord. 1: 93–97.
  Article CAS PubMed Google Scholar
• Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat. Genet. 2: 292–300.
  Article CAS PubMed Google Scholar
• Chance PF, Alderson MK, Leppig KA, et al. (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72: 143–151.
  Article CAS PubMed Google Scholar
• Chance PF, Abbas N, Lensch MW, et al. (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum. Mol. Genet. 3: 223–228.
  Article CAS PubMed Google Scholar
• Lupski JR, Wise CA, Kuwano A, et al. (1992) Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat. Genet. 1: 29–33.
  Article CAS PubMed Google Scholar
• Chance PF, Bird TD, Matsunami N, Lensch MW, Brothman AR, Feldman GM. (1992) Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: Evidence for gene dosage as a mechanism in CMT1A. Neurology 42: 2295–2299.
  Article CAS PubMed Google Scholar
• Suter U, Welcher AA, özcelik T, et al. (1992) Trembler mouse carries a point mutation in a myelin gene. Nature 356: 241–244.
  Article CAS PubMed Google Scholar
• Suter U, Moskow JJ, Welcher AA, et al. (1992) A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse. Proc. Natl. Acad. Sci. U.S.A. 89: 4382–4386.
  Article CAS PubMed PubMed Central Google Scholar
• Patel PI, Roa BB, Welcher AA, et al. (1992) The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat. Genet. 1: 159–165.
  Article CAS PubMed Google Scholar
• Valentijn LJ, Bolhuis PA, Zorn I, et al. (1992) The peripheral myelin gene PMP22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat. Genet. 1: 166–170.
  Article CAS PubMed Google Scholar
• Timmerman V, Nelis E, Van Hul W, et al. (1992) The peripheral myelin protein gene PMP22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat. Genet. 1: 171–175.
  Article CAS PubMed Google Scholar
• Matsunami N, Smith B, Ballard L, et al. (1992) Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat. Genet. 1: 176–179.
  Article CAS PubMed Google Scholar
• Warner LE, Roa BB, Lupski JR. (1996) Absence of PMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A. Hum. Mutat. 8: 362.
  Article CAS PubMed Google Scholar
• Roa BB, Garcia CA, Suter U, et al. (1993) Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP22 gene. N. Engl. J. Med. 329: 96–101.
  Article CAS PubMed Google Scholar
• Valentijn LJ, Baas F, Wolterman RA, et al. (1992) Identical point mutations of PMP22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat. Genet. 2: 288–291.
  Article CAS PubMed Google Scholar
• Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR. (1993) Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat. Genet. 5: 269–273.
  Article CAS PubMed Google Scholar
• Yoshikawa H, Nishimura T, Nakatsuji Y, et al. (1994) Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann. Neurol. 35: 445–450.
  Article CAS PubMed Google Scholar
• Sereda M, Griffiths I, Pühlhofer A, et al. (1996) A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 16: 1049–1060.
  Article CAS PubMed Google Scholar
• Huxley C, Passage E, Manson A, et al. (1996) Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. Hum. Mol. Genet. 5: 563–569.
  Article CAS PubMed Google Scholar
• Magyar JP, Martini R, Ruelicke T, et al. (1996) Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage. J. Neurosci. 16: 5351–5360.
  Article CAS PubMed Google Scholar
• Adlkofer K, Martini R, Aguzzi A, Zielasek J, Toyka KV, Suter U. (1995) Hypermyelination and demyelinating peripheral neuropathy in _Pmp22-_deficient mice. Nat. Genet. 11: 274–280.
  Article CAS PubMed Google Scholar
• Adlkofer K, Frei R, Neuberg DH-H, Zielasek J, Toyka KV, Suter U. (1997) Heterozygous _PMP22-_deficient mice are affected by a progressive demyelinating tomaculous neuropathy. J. Neurosci. 17: 4662–4671.
  Article CAS PubMed Google Scholar
• Lupski JR. (1997) Charcot-Marie-Tooth Disease: A gene-dosage effect. Hosp. Prac. 32: 83–122.
  Article CAS Google Scholar
• Lupski JR. (1998) Molecular genetics of peripheral neuropathies. Scientific American Neurology, Scientific American Press, New York (in press).
  Google Scholar
• Epstein CJ, (ed). (1986) The Consequences of Chromosome Imbalance: Principals, Mechanisms, and Models. Cambridge University Press, Cambridge, U.K.
  Google Scholar
• Kaku DA, Parry GJ, Malamut R, Lupski JR, Garcia CA. (1993) Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology 43: 1806–1808.
  Article CAS PubMed Google Scholar
• Roa BB, Greenberg F, Gunaratne P, et al. (1996) Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type 1A neuropathy. Hum. Genet. 97: 642–649.
  PubMed CAS Google Scholar
• Nicholson GA, Valentijn LJ, Cherryson AK, et al. (1994) A frameshift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat. Genet. 6: 263–266.
  Article CAS PubMed Google Scholar
• Young P, Wiebusch H, Stogbauer F, Ringelstein B, Assman G, Funke H. (1997) A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies. Neurology 48: 450–452.
  Article CAS PubMed Google Scholar
• Smith ACM, McGavran L, Robinson J, et al. (1986) Interstitial deletion of (17)(p11.2 p11.2) in nine patients. Am. J. Med. Genet. 24: 393–414.
  Article CAS PubMed Google Scholar
• Chen K-S, Manian P, Koeuth T, et al. (1997) Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat. Genet. 17: 154–163.
  Article CAS PubMed Google Scholar
• Zori RT, Lupski JR, Heju Z, et al. (1993) Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having mosaic 17p11.2p12 deletion. Am. J. Med. Genet. 47: 504–511.
  Article CAS PubMed Google Scholar
• Trask BJ, Mefford H, van den Engh G, et al. (1996) Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Hum. Genet. 98: 710–718.
  Article CAS PubMed Google Scholar
• Lupski JR, Roth JR, Weinstock GM. (1996) Chromosomal duplications in bacteria, fruit flies, and humans. Am. J. Hum. Genet. 58: 21–27.
  PubMed PubMed Central CAS Google Scholar
• Nelis E, Van Broeckhoven C. (1996) Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study. Eur. J. Hum. Genet. 4: 25–33.
  Article CAS PubMed Google Scholar
• Blair IP, Nash J, Gordon MJ, Nicholson GA. (1996) Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: First report of a de novo duplication with a maternal origin. Am. J. Hum. Genet. 58: 472–476.
  PubMed PubMed Central CAS Google Scholar
• Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR. (1997) The human COX10 gene is disrupted during homologous recombination between the 24-Kb proximal and distal CMT1A-REPs. Hum. Mol. Genet. 6: 1595–1603.
  Article CAS PubMed Google Scholar
• Reiter LT, Murakami T, Koeuth T, et al. (1996) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transponson-like element. Nature Genet. 12: 288–297.
  Article CAS PubMed Google Scholar
• Timmerman V, Rautenstrauss B, Reiter LT, et al. (1997) Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European decent. J. Med. Genet. 34: 43–49.
  Article CAS PubMed PubMed Central Google Scholar
• Reiter LT, Hastings PJ, Nelis E, DeJohnge P, Van Broeckhoven C, Lupski JR. (1998) Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP patients. Am. J. Hum. Genet, (in press).
• Murakami T, Reiter LT, Lupski JR. (1997) Genomic structure and expression of the human heme A: Farnesyltransf erase (COX10) gene. Genomics 42: 161–164.
  Article CAS PubMed Google Scholar
• Kiyosawa H, Chance P. (1996) Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot. Hum. Mol. Genet. 5: 745–753.
  Article CAS PubMed Google Scholar
• Warner LE, Reiter LT, Murakami T, Lupski JR. (1996) Molecular mechanisms for Charcot-Marie-Tooth disease and related demyelinating peripheral neuropathies. Cold Spring Harbor Symposia on Quantitative Biology 61: 659–670.
  Article CAS PubMed Google Scholar
• Shapiro L, Doyle JP, Hensley P, Colman DR, Hendrickson W. (1996) Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. Neuron 17: 435–449.
  Article CAS PubMed Google Scholar
• Warner LE, Hilz M, Appel S, et al. (1996) Clinical phenotype of different MPZ mutations may include Charcot-Marie-Tooth type IB, Dejerine-Sottas, and congenital hypomyelination. Neuron 17: 451–460.
  Article CAS PubMed Google Scholar
• Liehr T, Rautenstrauss B, Grehl H, et al. (1996) Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. Hum. Genet. 98: 22.
  Article CAS PubMed Google Scholar
• Grehl H, Rautenstrauss B, Liehr T, et al. (1997) Clinical and morphological phenotype of HMSN 1A mosaicism. Neuromuscul. Disord. 7: 27–31.
  Article CAS PubMed Google Scholar
• Lupski JR. (1996) DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies. Clin. Chem. 42: 995.
  PubMed CAS Google Scholar
• Roa BB, Ananth U, Garcia CA, Lupski JR. (1995) Molecular diagnosis of CMT1A and HNPP. Lab. Med. Int. 12: 22–24.
  Google Scholar
• Shaffer LG, Kennedy GM, Spikes AS, Lupski JR. (1997) Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory. Am. J. Med. Genet. 69: 325–331.
  Article CAS PubMed Google Scholar
• Killian JM, Tiwari PS, Jacobson S, Jackson RD, Lupski JR. (1996) Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy. Muscle Nerve 19: 74–78.
  Article CAS PubMed Google Scholar