A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes

Neurogenetics - Tập 5 - Trang 171-175 - 2004
Kleopas A. Kleopa1,2, Domna-Maria Georgiou3, Paschalis Nicolaou3, Pantelitsa Koutsou3, Eleftherios Papathanasiou1, Theodoros Kyriakides1, Kyproula Christodoulou3
1Department of Clinical Neurosciences, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
2The Cyprus Institute of Neurology and Genetics, Cyprus
3Department of Molecular Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

Tóm tắt

We describe a Cypriot family in which some family members presented with episodes of pressure palsies, while other family members had a slowly progressive chronic polyneuropathy typical of the Charcot-Marie-Tooth type 1 phenotype. All family members were evaluated clinically, with nerve conduction studies, and with genetic testing. In all affected individuals there was clinical and electrophysiological evidence of diffuse demyelinating sensorimotor polyneuropathy and a novel point mutation in the PMP22 gene (Ser22Phe) was identified.

Tài liệu tham khảo

Windebank T (1993) Inherited recurrent focal neuropathies. In: Dyck PJ, Thomas P, Griffin J, Low P, Poduslo J (eds) Peripheral neuropathies. Saunders, Philadelphia, pp 1137–1148 Gouider R, LeGuern E, Gugenheim M, Tardieu S, Maisonobe T, Leger JM, Vallat JM, Agid Y, Bouche P, Brice A (1995) Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. Neurology 45:2018–2023 Mouton P, Tardieu S, Gouider R, Birouk N, Maisonobe T, Dubourg O, Brice A, LeGuern E, Bouche P (1999) Spectrum of clinical and electrophysiological features in HNPP patients with the 17p11.2 deletion. Neurology 52:1440–1446 Pareyson D, Scaioli V, Taroni F, Botti S, Lorenzetti D, Solari A, Ciano C, Sghirlanzoni A (1996) Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2–12 deletion. Neurology 46:1133–1137 Tyson J, Malcolm S, Thomas PK, Harding AE (1996) Deletions of chromosome 17p11.2 in multifocal neuropathies. Ann Neurol 39:180–186 Sellman MS, Mayer, RF (1987) Conduction block in hereditary neuropathies with susceptibility to pressure palsies. Muscle Nerve 10:621–625 Lupski JR, Oca-Luna RM de, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, et al (1991) DNA duplication associated with Charcot-Marie-Tooth disease type IA. Cell 66:219–232 Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72:143–151 Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR (1993) Charcot-Marie-Tooth disease type-1A—association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 329:96–101 Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NHA, Zorn I, Gabreels-Festen AWM, de Visser M, Bolhuis PA (1992) Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type-1A. Nat Genet 2:288–291 Stronach E, Clark C, Bell C, Lofgren A, McKay N, Timmerman V, Van Broeckhoven C, Haites N (1999) Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies. J Peripher Nerv Syst 4:117–122 van de Wetering R, Gabreels-Festen A, Timmerman V, Padberg G, Gabreels F, Mariman E (2002) Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene. Neuromusc Dis 12:651–655 Roa BB, Garcia CA, Pentai L, Killian JM, Trask BJ, Suter U, Snipes GJ, Oritz-Lopez R, Shooter EM, Patel PI, Lupski JR (1993) Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type IA. Nat Genet 5:189–194 Nelis E, Holmberg B, Adolfsson R, Holmgren G, Van Broeckhoven C (1997) PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism? Nat Genet 15:13–14 Young P, Stogbauer F, Eller B, de Jonghe P, Lofgren A, Timmerman V, Rautenstrauss B, Oexle K, Grehl H, Kuhlenbaumer G, VanBroeckhoven C, Ringelstein EB, Funke H (2000) PMP22 Thr118Met is not a clinically relevant CMT1 marker. J Neurol 247:696–700 Nodera H, Nishimura M, Logigian E, Herrmann D, Kaji R (2003) HNPP due to a novel missense mutation of the PMP22 gene. Neurology 60:1863–1864 Sahenk Z, Chen L, Freimer M (1998) A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts. Neurology 51:702–707 Schenone A, Nobbio L, Mandich P, Bellone E, Abbruzzese M, Aymar F, Mancardi GL, Windebank AJ (1997) Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. Neurology 48:445–449 Vallat JM, Sindou P, Preux PM, Tabaraud F, Milor AM, Couratier P, LeGuern E, Brice A (1996) Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann Neurol 39:813–817 Adlkofer K, Frei R, Neuberg DH-H, Zielasek J, Toyka KV, Suter U (1997) Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating peripheral neuropathy. J Neurosci 17:4662–4671 Lupski J, Garcia C (2001) Charcot-Marie-Tooth peripheral neuropathies and related disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 5759–5788 D’Urso D, Prior R, Greiner-Petter R, Gabreels-Festen AAWM, Muller HW (1998) Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22. J Neurosci 18:731–740 Naef R, Adlkofer K, Lescher B, Suter U (1997) Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies. Mol Cell Neurosci 9:13–25 Naef R, Suter U (1999) Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies. Neurobiol Dis 6:1–14 Notterpek L, Shooter EM, Snipes GJ (1997) Upregulation of the endosomal-lysosomal pathway in the Trembler-J neuropathy. J Neurosci 17:4190–4200 Tobler AR, Notterpek L, Naef R, Taylor V, Suter U, Shooter EM (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 19:2027–2036 Hanemann CO, D’Urso D, Gabreels-Festen AAWM, Muller HW (2000) Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A. Brain 123:1001–1006 Lenssen PPA, Gabreels-Festen AAWM, Valentijn LJ, Jongen PJH, van Beersum SEC, van Engelen BGM, van Wensen PJM, Bolhuis PA, Gabreels EJM, Mariman ECM (1998) Hereditary neuropathy with liability to pressure palsies—phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation. Brain 121:1451–1458 Li J, Krajewski K, Shy M, Lewis R (2002) Hereditary neuropathy with liability to pressure palsy—the electrophysiology fits the name. Neurology 58:1769–1773