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

1993, vols. 1 and 2, 1720 Harding, 1980, The clinical feature of hereditary motor and sensory neuropathy types I and II, Brain, 103, 259, 10.1093/brain/103.2.259 Pareyson, 1996, Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion, Neurology, 46, 1133, 10.1212/WNL.46.4.1133 De Jonghe, 1999, A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype, Arch Neurol, 56, 1283, 10.1001/archneur.56.10.1283 Lenssen, 1998, Hereditary neuropathy with liability to pressure palsies: phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation, Brain, 121, 1451, 10.1093/brain/121.8.1451 Bissar-Tadmouri, 2000, Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients, Clin Genet, 58, 396, 10.1034/j.1399-0004.2000.580511.x Gouider, 1995, Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion, Neurology, 45, 2018, 10.1212/WNL.45.11.2018 Kleopa, 2002, Inherited neuropathies, Neurol Clin North Am, 20, 679, 10.1016/S0733-8619(01)00016-0 Lupski, 1991, DNA duplication associated with Charcot-Marie-Tooth disease type 1A, Cell, 66, 219, 10.1016/0092-8674(91)90613-4 Timmerman, 1992, The peripheral myelin gene PMP22 is contained within the Charcot-Marie-Tooth type 1A duplication, Nat Genet, 1, 171, 10.1038/ng0692-171 Hayasaka, 1993, Structure and chromosomal localization of the gene encoding the protein zero (MPZ), Genomics, 17, 755, 10.1006/geno.1993.1400 Kulkens, 1993, Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B, Nat Genet, 5, 853, 10.1038/ng0993-35 Su, 1993, Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B patients, Proc Natl Acad Sci USA, 90, 10856, 10.1073/pnas.90.22.10856 Street, 2002, Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies, Am J Hum Genet, 70, 244, 10.1086/337943 Street, 2003, Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C, Neurology, 60, 22, 10.1212/WNL.60.1.22 Verhoeven, 2001, Localization of the gene for the Intermediated form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1, Am J Genet, 69, 889, 10.1086/323742 Warner, 1998, Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies, Nat Genet, 18, 382, 10.1038/ng0498-382 Raeymaekers, 1992, Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1A (CMT1A), J Med Genet, 29, 5, 10.1136/jmg.29.1.5 Nelis, 1996, 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, 25, 10.1159/000472166 Sahenk, 1999, Effects of PMP22 duplication and deletions on the axonal cytoskeleton, Ann Neurol, 45, 16, 10.1002/1531-8249(199901)45:1<16::AID-ART5>3.0.CO;2-F Yoshikawa, 1994, 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, 445, 10.1002/ana.410350412 Adlkofer, 1995, Hypermyelination and demyelinating peripheral neuropathy in PMP22-deficient mice, Nat Genet, 11, 274, 10.1038/ng1195-274 Schenone, 1997, Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies, Neurology, 48, 445, 10.1212/WNL.48.2.445 Huxley, 1998, 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, 449, 10.1093/hmg/7.3.449 Roa, 1993, Charcot-Marie-Tooth type 1A: association with a spontaneous point mutation in the PMP22 gene, N Engl J Med, 329, 96, 10.1056/NEJM199307083290205 Valentijn, 1992, Identical point mutations of PMP22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A, Nat Genet, 2, 288, 10.1038/ng1292-288 Bickerstaff, 1963 Canelas, 1958, Vibration sense: its clinical significance in some diseases of the nervous system, Arq Neuropsquiatr, 16, 275, 10.1590/S0004-282X1958000400001 Gundersen, 1986, Stereology of arbitary particles, J Microsc, 143, 3, 10.1111/j.1365-2818.1986.tb02764.x Blair, 1995, Detection of Charcot-Marie-Tooth type 1A duplication by polymerase chain reaction, Clin Chem, 41, 1105, 10.1093/clinchem/41.8.1105 Patel, 1992, The gene for the peripheral protein PMP22 is a candidate for Charcot-Marie-Tooth disease type 1A, Nat Genet, 1, 159, 10.1038/ng0692-159 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. Krajewski, 2000, Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A, Brain, 123, 1516, 10.1093/brain/123.7.1516 Berciano, 1986, Hereditary motor and sensory neuropathy type II—clinicopathological study of a family, Brain, 109, 897, 10.1093/brain/109.5.897 Marrosu, 1997, A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A, Neurology, 48, 489, 10.1212/WNL.48.2.489 Navon, 1996, A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease, Hum Genet, 97, 685, 10.1007/BF02281883 Kaku, 1993, Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1, Neurology, 43, 2664, 10.1212/WNL.43.12.2664 Oh, 1992, Conduction block in hereditary motor sensory neuropathy type 1: case report, Muscle Nerve, 15, 521 Uncini, 1993, Sensitivity and specificity of diagnostic criteria for conduction block in chronic inflammatory demyelinating polyneuropathy, Electroencephalogr Clin Neurophysiol, 89, 161, 10.1016/0168-5597(93)90129-D Gabreëls-Festen, 1993, Hereditary demyelinating motor and sensory neuropathy, Brain Pathol, 3, 135, 10.1111/j.1750-3639.1993.tb00738.x Gabreëls-Festen, 1992, Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I), J Neurol Sci, 107, 145, 10.1016/0022-510X(92)90282-P De Jonghe, 1999, The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype, Brain, 122, 281, 10.1093/brain/122.2.281 Sancho, 1999, Distal axonopathy in peripheral nerves of PMP22-mutant mice, Brain, 122, 1563, 10.1093/brain/122.8.1563 Sander, 2000, Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies, J Neurol Neurosurg Psychiatry, 68, 483, 10.1136/jnnp.68.4.483 De Waegh, 1990, 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, 1855, 10.1523/JNEUROSCI.10-06-01855.1990 Friedman, 1999, Trophic factors in neuron–Schwann cell interactions, Ann NY Acad Sci, 883, 427, 10.1111/j.1749-6632.1999.tb08603.x Hanemann, 1997, 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, 310, 10.1007/s004010050712 Lodish, 2001 Mancardi, 1995, Progressive sensory–motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion, J Neurol Sci, 131, 30, 10.1016/0022-510X(95)00042-Z Ionasescu, 1998, 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, 1308, 10.1002/(SICI)1097-4598(199710)20:10<1308::AID-MUS14>3.0.CO;2-Z Tobler, 1999, 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, 2027, 10.1523/JNEUROSCI.19-06-02027.1999 Tobler, 2002, Differential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22, Proc Natl Acad Sci USA, 99, 483, 10.1073/pnas.012593399 D'Urso, 1999, Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin, J Neurosci, 19, 3396, 10.1523/JNEUROSCI.19-09-03396.1999 Notterpek, 1997, Upregulation of the endosomal–lysosomal pathway in the Trembler-J neuropathy, J Neurosci, 17, 4190, 10.1523/JNEUROSCI.17-11-04190.1997 Naef, 1999, Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies, Neurobiol Dis, 6, 1, 10.1006/nbdi.1998.0227 Azzedine, 2003, 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, 1141, 10.1086/375034 Zatz, 1998, The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females, Am J Genet, 77, 155, 10.1002/(SICI)1096-8628(19980501)77:2<155::AID-AJMG9>3.0.CO;2-R Zatz, 2000, Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes, Curr Opin Neurol, 13, 511, 10.1097/00019052-200010000-00002 Zatz, 2003, The ten autosomal recessive limb girdle muscular dystrophies, Neuromuscul Disord, 13, 532, 10.1016/S0960-8966(03)00100-7