A novel stop codon mutation in the PMP22 gene associated with a variable phenotype

Neuromuscular Disorders

Volumn 14, Issue 5, 2004, Pages 313-320

  Abe, K T ^a   Lino, A M M ^a   Hirata, M T A ^a   Pavanello, R C M ^a   Brotto, M W I ^a   Marchiori, P E ^a   Zatz, M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Charcot Marie Tooth type 1; Electrophysiology; Histology; Peripheral myelin protein 22; Stop codon mutation

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22;

ADOLESCENT; AGED; ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; FAMILY; FEMALE; GENE FUNCTION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; STOP CODON;

ADOLESCENT; ADULT; AGED; AXONS; BIOPSY; CHARCOT-MARIE-TOOTH DISEASE; CODON, TERMINATOR; CYSTEINE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUTATION; MYELIN PROTEINS; NEUROLOGIC EXAMINATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SURAL NERVE;

EID: 1942489831     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2004.01.007     Document Type: Article

References (59)

1. Dyck P.J., Thomas P.J., Griffin J.W., Low P.A., Poduslo J.F. 3rd ed Peripheral neuropathy. vols. 1 and 2:1993;1720 Saunders, Philadelphia, PA.
2. Harding A.E., Thomas P.K. The clinical feature of hereditary motor and sensory neuropathy types I and II. Brain. 103:1980;259-280.
3. Pareyson D., Scaioli V., Taroni F., et al. Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion. Neurology. 46:1996;1133-1137.
4. De Jonghe P., Timmerman V., Nelis E., et al. A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. Arch Neurol. 56:1999;1283-1288.
5. Lenssen P.P.A., Gabreëls-Festen A.A.W.M., Valentijn L.J., et al. Hereditary neuropathy with liability to pressure palsies: phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation. Brain. 121:1998;1451-1458.
6. Bissar-Tadmouri N., Parman Y., Boutrand L., et al. Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients. Clin Genet. 58:2000;396-402.
7. Gouider R., LeGuern E., Gugenhein M., et al. Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. Neurology. 45:1995;2018-2023.
8. Kleopa K.A., Scherer S.S. Inherited neuropathies. Neurol Clin North Am. 20:2002;679-709.
9. Lupski J.R., Oca-Luna R.M., Slaugenhaupt S., et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 66:1991;219-232.
10. Timmerman V., Nelis E., van Hul W., et al. The peripheral myelin gene PMP22 is contained within the Charcot-Marie-Tooth type 1A duplication. Nat Genet. 1:1992;171-175.
11. Hayasaka K., Himoro M., Wang Y., et al. Structure and chromosomal localization of the gene encoding the protein zero (MPZ). Genomics. 17:1993;755-758.
12. Kulkens T., Bolhuis P.A., Wolterman R.A., et al. Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. Nat Genet. 5:1993;853-858.
13. Su Y., Brooks D.G., Lepercq J., Trofatter J.A., Ravetch J.V., Lebo R.V. Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B patients. Proc Natl Acad Sci USA. 90:1993;10856-10860.
14. Street V.A., Goldy J.D., Golden A.S., Tempel B.L., Bird T.D., Chance P.F. Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. Am J Hum Genet. 70:2002;244-255.
15. Street V.A., Bennett C.L., Goldy J.D., et al. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology. 60:2003;22-26.
16. Verhoeven K., Villanova M., Rossi A., Malandrini A., De Jonghe P., Timmermann V. Localization of the gene for the Intermediated form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. Am J Genet. 69:2001;889-894.
17. Warner L.E., Mancias P., Butler I.J., et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet. 18:1998;382-384.
18. Raeymaekers P., Timmerman V., Nelis E., The HMSN Collaborative Research Group. Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1A (CMT1A). J Med Genet. 29:1992;5-11.
19. Nelis E., van Broeckhoven C. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: european collaborative study. Eur J Hum Genet. 4:1996;25-33.
20. Sahenk S., Chen L., Mendell J.R. Effects of PMP22 duplication and deletions on the axonal cytoskeleton. Ann Neurol. 45:1999;16-24.
21. Yoshikawa J., Nishimura T., Nakatsuji Y., et al. Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth type 1-A. Ann Neurol. 35:1994;445-450.
22. Adlkofer K., Martini R., Aguzzi A., Zielasek J., Tokya K.V., Suter U. Hypermyelination and demyelinating peripheral neuropathy in PMP22-deficient mice. Nat Genet. 11:1995;274-280.
23. Schenone A., Nobbio L., Mandich P., et al. Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. Neurology. 48:1997;445-449.
24. Huxley C., Passage E., Robertson A.M., et al. Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice. Hum Mol Genet. 7:1998;449-458.
25. Roa B.B., Garcia C.A., Suter U., et al. Charcot-Marie-Tooth type 1A: association with a spontaneous point mutation in the PMP22 gene. N Engl J Med. 329:1993;96-101.
26. Valentijn L.J., Baas F., Wolterman R.A., et al. Identical point mutations of PMP22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet. 2:1992;288-291.
27. Bickerstaff E.R. Neurological examination in clinical practice. 1963;Blackwell, Oxford. 357 p.
28. Canelas H.M. Vibration sense: its clinical significance in some diseases of the nervous system. Arq Neuropsquiatr. 16:1958;275-352.
29. Gundersen H.J.G. Stereology of arbitary particles. J Microsc. 143:1986;3-45.
30. Blair I.P., Kennerson M.L., Nicholson G.A. Detection of Charcot-Marie-Tooth type 1A duplication by polymerase chain reaction. Clin Chem. 41:1995;1105-1108.
31. Patel P.I., Roa B.B., Welcher A.A., et al. The gene for the peripheral protein PMP22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1:1992;159-165.
32. Lino AMM. Immunohistochemical expression of TNF-a, Fas antigen, GAP-43 and evaluation of apoptosis in human peripheral neuropathy. Correlation with clinic, electrophysiology and histology (in Portuguese). Tese (Doutorado), Faculdade de Medicina da Universidade de São Paulo; 2000, 178 p.
33. Krajewski K.M., Lewis R.A., Fuerst D.R., et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain. 123:2000;1516-1527.
34. Berciano J., Combarros O., Figols J., et al. Hereditary motor and sensory neuropathy type II - clinicopathological study of a family. Brain. 109:1986;897-914.
35. Marrosu M.G., Vaccargiu S., Marrosu G., Vannelli A., Chianchetti C., Muntoni F. A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A. Neurology. 48:1997;489-493.
36. Navon R., Seifried B., Gal-On N.S., Sadeh M. A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease. Hum Genet. 97:1996;685-687.
37. 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. 43:1993;2664-2667.
38. Oh S.J. Conduction block in hereditary motor sensory neuropathy type 1: case report. Muscle Nerve. 15:1992;521-522.
39. Uncini A., Di Muzio A., Sabatelli M., Magi S., Tonali P., Gambi D. Sensitivity and specificity of diagnostic criteria for conduction block in chronic inflammatory demyelinating polyneuropathy. Electroencephalogr Clin Neurophysiol. 89:1993;161-169.
40. Gabreëls-Festen A., Gabreëls F. Hereditary demyelinating motor and sensory neuropathy. Brain Pathol. 3:1993;135-146.
41. Gabreëls-Festen A.A.W.M., Joosten E.M.G., Gabreëls F.J.M., Jennekens F.G.I., Janssen-van Kempen T.W. Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I). J Neurol Sci. 107:1992;145-154.
42. De Jonghe P., Timmerman V., Ceuterick C., et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain. 122:1999;281-290.
43. Sancho S., Magyar J.P., Aguzzi A., Suter U. Distal axonopathy in peripheral nerves of PMP22-mutant mice. Brain. 122:1999;1563-1577.
44. Sander S., Ouvrier R.A., McLeod J.G., Nicholson G.A., Pollard J.D. Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies. J Neurol Neurosurg Psychiatry. 68:2000;483-488.
45. De Waegh S., Brady S.T. Altered slow axonal transport and regeneration in a myelin-deficient mutant mouse: the trembler as an in vivo model for Schwann cell-axon interactions. J Neurosci. 10:1990;1855-1865.
46. Friedman H.C.H., Aguayo A.J., Bray G.M. Trophic factors in neuron-Schwann cell interactions. Ann NY Acad Sci. 883:1999;427-438.
47. Hanemann C.O., Gabreëls-Festen A.A.W.M., Stoll G., Müller H.W. Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs. Acta Neuropathol. 94:1997;310-315.
48. Lodish H., Berk A., Zipursky S.L., Matsudaira P., Baltimore D., Darnell J.E. Molecular cell biology. 4th ed:2001;Freeman, New York. 1084 p.
49. Mancardi G.L., Mandich P., Nassani S., et al. Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. J Neurol Sci. 131:1995;30-34.
50. Ionasescu V.V., Searby C.S., Ionasescu R., Reisin R., Ruggieri V., Arberas C. Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene. Muscle Nerve. 20:1998;1308-1310.
51. Tobler A.R., Notterpek L., Naef R., Taylor V., Suter U., Shooter E.M. Transport of trembler-J mutant peripheral myelin protein 22 is blocked in the intermediate compartment and affects the transport of the wild-type protein by direct interaction. J Neurosci. 19:1999;2027-2036.
52. Tobler A.R., Liu N., Mueller L., Shooter E.M. Differential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22. Proc Natl Acad Sci USA. 99:2002;483-488.
53. D'Urso D., Ehrhardt P., Muller H.W. Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin. J Neurosci. 19:1999;3396-3403.
54. Notterpek L., Shooter E.M., Snipes G.J. Upregulation of the endosomal-lysosomal pathway in the Trembler-J neuropathy. J Neurosci. 17:1997;4190-4200.
55. Naef R., Suter U. Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies. Neurobiol Dis. 6:1999;1-14.
56. Azzedine H., Bolino A., Taieb T., et al. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet. 72:2003;1141-1153.
57. Zatz M., Marie S.K., Cerqueira A., Vainzof M., Pavanello R.C., Passos-Bueno M.R. The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females. Am J Genet. 77:1998;155-161.
58. Zatz M., Vainzof M., Passos-Bueno M.R. Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes. Curr Opin Neurol. 13:2000;511-517.
59. Zatz M., Paula F., Starling A., Vainzof M. The ten autosomal recessive limb girdle muscular dystrophies. Neuromuscul Disord. 13:2003;532-544.