Charcot-Marie-Tooth disease: Lessons in genetic mechanisms

Molecular Medicine

Volumn 4, Issue 1, 1998, Pages 3-11

  Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME DUPLICATION; DNA DETERMINATION; GENE DOSAGE; GENE REARRANGEMENT; GENETIC HETEROGENEITY; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

EID: 0031892597     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf03401724     Document Type: Review

References (59)

1. 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.
2. Tooth H. (1886) The Peroneal Type of Progressive Muscular Atrophy. H. K. Lewis, London.
3. Allan W. (1939) Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy. Arch. Intern. Med. 63: 1123-1131.
4. 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. 1094-1136.
5. 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.
6. 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.
7. Vance JM, Nicholson GA, Yamaoka LH, et al. (1989) Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp. Neurol. 104: 186-189.
8. 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.
9. Raeymaekers P, Timmerman V, Nelis E, et al. (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). Neuromuscul. Disord. 1: 93-97.
10. 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.
11. Chance PF, Alderson MK, Leppig KA, et al. (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72: 143-151.
12. 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.
13. 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.
14. 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.
15. Suter U, Welcher AA, Özcelik T, et al. (1992) Trembler mouse carries a point mutation in a myelin gene. Nature 356: 241-244.
16. 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.
17. 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.
18. 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.
19. 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.
20. 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.
21. 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.
22. 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.
23. Valentijn LJ, Baas F, Wolterman RA, et al. (1992) Identical point mutations of PMP22 in Trembler-J mouse and Charcol-Marie-Tooth disease type 1A. Nat. Genet. 2: 288-291.
24. 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.
25. 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.
26. Sereda M, Griffiths I, Pühlhofer A, et al. (1996) A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 16: 1049-1060.
27. 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.
28. 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.
29. 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.
30. 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.
31. Lupski JR. (1997) Charcot-Marie-Tooth Disease: A gene-dosage effect. Hasp. Prac. 32: 83-122.
32. Lupski JR. (1998) Molecular genetics of peripheral neuropathies. Scientific American Neurology, Scientific American Press, New York (in press).
33. Epstein CJ, (ed). (1986) The Consequences of Chromosome Imbalance: Principals, Mechanisms, and Models. Cambridge University Press, Cambridge, U.K.
34. 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.
35. 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.
36. Nicholson GA, Valentijn LJ, Cherryson AK, et al. (1994) A frame-shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat. Genet. 6: 263-266.
37. 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.
38. 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.
39. 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.
40. 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.
41. 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.
42. Lupski JR, Roth JR, Weinstock GM. (1996) Chromosomal duplications in bacteria, fruit flies, and humans. Am. J. Hum. Genet. 58: 21-27.
43. 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.
44. 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.
45. 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.
46. 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.
47. 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.
48. 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).
49. Murakami T, Reiter LT, Lupski JR. (1997) Genomic structure and expression of the human heme A: Farnesyltransferase (COX10) gene. Genomics 42: 161-164.
50. 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.
51. 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.
52. 0, the major structural protein of peripheral nerve myelin. Neuron 17: 435-449.
53. Warner LE, Hilz M, Appel S, et al. (1996) Clinical phenotype of different MPZ mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 17: 451-460.
54. 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.
55. Grehl H, Rautenstrauss B, Liehr T, et al. (1997) Clinical and morphological phenotype of HMSN 1A mosaicism. Neuromuscul. Disord. 7: 27-31.
56. Lupski JR. (1996) DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies. Clin. Chem. 42: 995.
57. Roa BB, Ananth U, Garcia CA, Lupski JR. (1995) Molecular diagnosis of CMT1A and HNPP. Lab. Med. Int. 12: 22-24.
58. 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.
59. 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.