[1] Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med , 2010, 362(13): 1181-1191. [2] Rossor AM, Polke JM, Houlden H, Reilly MM. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol , 2013, 9(10): 562-571. [3] Xu WY, Gu MM, Sun LH, Guo WT, Zhu HB, Ma JF, Yuan WT, Kuang Y, Ji BJ, Wu XL, Chen Y, Zhang HX, Sun FT, Huang W, Huang L, Chen SD, Wang ZG. A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. Am J Hum Genet , 2012, 91(6): 1088-1094. [4] Claeys KG, Lammens M, Senderek J, Weis J. Autosomal recessive demyelinating or axonal Charcot-Marie-Tooth neuropathy. In: Vallat JM, Director JW. Peripheral nerve disorders: pathology and genetics. UK: The International Society of Neuropathology, 2014: 85-101. [5] Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet , 2002, 30(1): 21-22. [6] Niemann A, Ruegg M, La Padula V, Schenone A, Suter U. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol , 2005, 170(7): 1067-1078. [7] Pedrola L, Espert A, Wu XY, Claramunt R, Shy ME, Palau F. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet , 2005, 14(8): 1087-1094. [8] Niemann A, Huber N, Wagner KM, Somandin C, Horn M, Lebrun-Julien F, Angst B, Pereira JA, Halfter H, Welzl H, Feltri ML, Young P, Wessig C, Toyka KV, Suter U. The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease. Brain , 2014, 137(Pt 3): 668-682. [9] Noack R, Frede S, Albrecht P, Henke N, Pfeiffer A, Knoll K, Dehmel T, Meyer Zu Hörste G, Stettner M, Kieseier BC, Summer H, Golz S, Kochanski A, Wiedau-Pazos M, Arnold S, Lewerenz J, Methner A. Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential. Hum Mol Genet , 2012, 21(1): 150-162. [10] Tazir M, Bellatache M, Nouioua S, Vallat JM. Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes. J Peripher Nerv Syst , 2013, 18(2): 113-129. [11] Bolino A, Bolis A, Previtali SC, Dina G, Bussini S, Dati G, Amadio S, Del Carro U, Mruk DD, Feltri ML, Cheng CY, Quattrini A, Wrabetz L. Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. J Cell Biol , 2004, 167(4): 711-721. [12] Berger P, Berger I, Schaffitzel C, Tersar K, Volkmer B, Suter U. Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. Hum Mol Genet , 2006, 15(4): 569-579. [13] Robinson FL, Dixon JE. The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. J Biol Chem , 2005, 280(36): 31699-316707. [14] Tersar K, Boentert M, Berger P, Bonneick S, Wessig C, Toyka KV, Young P, Suter U. Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. Hum Mol Genet , 2007, 16(24): 2991-3001. [15] Robinson FL, Niesman IR, Beiswenger KK, Dixon JE. Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice. Proc Natl Acad Sci USA , 2008, 105(12): 4916-4921. [16] Ng AA, Logan AM, Schmidt EJ, Robinson FL. The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression. Hum Mol Genet , 2013, 22(8): 1493-1506. [17] Nakhro K, Park JM, Hong YB, Park JH, Nam SH, Yoon BR, Yoo JH, Koo H, Jung SC, Kim HL, Kim JY, Choi KG, Choi BO, Chung KW. SET binding factor 1 ( SBF1 ) mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology , 2013, 81(2): 165-173. [18] Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, Médard JJ, Tricaud N, Kleine H, Luscher B, Weis J, Suter U, Senderek J, Chrast R. SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system. Proc Natl Acad Sci USA , 2009, 106(41): 17528-17533. [19] Colomer J, Gooding R, Angelicheva D, King RHM, Guillén-Navarro E, Parman Y, Nascimento A, Conill J, Kalaydjieva L. Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2 . Neuromuscul Disord , 2006, 16(7): 449-453. [20] LeGuern E, Guilbot A, Kessali M, Ravisé N, Tassin J, Maisonobe T, Grid D, Brice A. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. Hum Mol Genet , 1996, 5(10): 1685-1688. [21] Yger M, Stojkovic T, Tardieu S, Maisonobe T, Brice A, Echaniz-Laguna A, Alembik Y, Girard S, Cazeneuve C, LeGuern E, Dubourg O. Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C. J Peripher Nerv Syst , 2012, 17(1): 112-122. [22] Iguchi M, Hashiguchi A, Ito E, Toda K, Urano M, Shimizu Y, Takeuchi C, Saito K, Takashima H, Uchiyama S. Charcot-marie-tooth disease type 4C in Japan: Report of a case. Muscle Nerve , 2013, 47(2): 283-286. [23] Houlden H, Laura M, Ginsberg L, Jungbluth H, Robb SA, Blake J, Robinson S, King RHM, Reilly MM. The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. Neuromuscul Disord , 2009, 19(4): 264-269. [24] Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RHM, Thomas PK. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet , 2000, 67(1): 47-58. [25] Roberts RC, Peden AA, Buss F, Bright NA, Latouche M, Reilly MM, Kendrick-Jones J, Luzio JP. Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. Hum Mol Genet , 2010, 19(6): 1009-1018. [26] Lupo V, Galindo MI, Martínez-Rubio D, Sevilla T, Vílchez JJ, Palau F, Espinós C. Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. Hum Mol Genet , 2009, 18(23): 4603-4614. [27] Stendel C, Roos A, Kleine H, Arnaud E, Özçelik M, Sidiropoulos PNM, Zenker J, Schüpfer F, Lehmann U, Sobota RM, Litchfield DW, Lüscher B, Chrast R, Suter U, Senderek J. SH3TC2, a protein mutant in Charcot-Marie- Tooth neuropathy, links peripheral nerve myelination to endosomal recycling. Brain , 2010, 133(8): 2462-2474. [28] Kalaydjieva L, Nikolova A, Turnev I, Petrova J, Hristova A, Ishpekova B, Petkova I, Shmarov A, Stancheva S, Middleton L, Merlini L, Trogu A, Muddle JR, King RH, Thomas PK. Hereditary motor and sensory neuropathy——Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings. Brain , 1998, 121(3): 399-408. [29] Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D, King RHH, Ishpekova B, Honeyman K, Calafell F, Shmarov A, Petrova J, Turnev I, Hristova A, Moskov M, Stancheva S, Petkova I, Bittles AH, Georgieva V, Middleton L, Thomas PK. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet , 1996, 14(2): 214-217. [30] Pietiäinen V, Vassilev B, Blom T, Wang W, Nelson J, Bittman R, Bäck1 N, Zelcer N, Ikonen E. NDRG1 functions in LDL receptor trafficking by regulating endosomal recycling and degradation. J Cell Sci , 2013, 126(17): 3961-3971. [31] Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet , 1998, 18(4): 382-384. [32] Warner LE, Svaren J, Milbrandt J, Lupski JR. Functional consequences of mutations in the early growth response 2 gene ( EGR2 ) correlate with severity of human myelinopathies. Hum Mol Genet , 1999, 8(7): 1245-1251. [33] Topliko P, Schneider-Maunoury S, Levi G, Baron-Van Evercooren A, Chennoufi ABY, Seitanidou T, Babinet C, Charnay P. Krox-20 controls myelination in the peripheral nervous system. Nature , 1994, 371(6500): 796-799. [34] Decker L, Desmarquet-Trin-Dinh C, Taillebourg E, Ghislain J, Vallat JM, Charnay P. Peripheral myelin maintenance is a dynamic process requiring constant Krox20 expression. J Neurosci , 2006, 26(38): 9771-9779. [35] Espinós C, Calpena E, Martínez-Rubio D, Lupo V. Autosomal recessive Charcot-Marie-Tooth neuropathy. Adv Exp Med Biol , 2012, 724: 61-75. [36] Guilbot A, Williams A, Ravisé N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Mégarbané A, Claustres M. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum Mol Genet , 2001, 10(4): 415-421. [37] Williams AC, Brophy PJ. The function of the Periaxin gene during nerve repair in a model of CMT4F. J Anat , 2002, 200(4): 323-330. [38] Sevilla T, Martínez-Rubio D, Márquez C, Paradas C, Colomer J, Jaijo T, Millán JM, Palau F, Espinós C. Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. Clin Genet , 2013, 83(6): 565-570. [39] Hantke J, Chandler D, King R, Wanders RJA, Angelicheva D, Tournev I, McNamara E, Kwa M, Guergueltcheva V, Kaneva R, Baas F, Kalaydjieva L. A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy-Russe (HMSNR). Eur J Hum Genet , 2009, 17(12): 1606-1614. [40] Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Lévy N. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor frabin cause autosomal recessive Charcot-Marie- Tooth type 4H. Am J Hum Genet , 2007, 81(1): 1-16. [41] Horn M, Baumann R, Pereira JA, Sidiropoulos PNM, Somandin C, Welzl H, Stendel C, Lühmann T, Wessig C, Toyka KV, Relvas JB, Senderek J, Suter U. Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells. Brain , 2012, 135(12): 3567-3583. [42] Chow CY, Zhang YL, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang XB, Lupski JR, Weisman LS, Meisler MH. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature , 2007, 448(7149): 68-72. [43] Nicholson G, Lenk GM, Reddel SW, Grant AE, Towne CF, Ferguson CJ, Simpson E, Scheuerle A, Yasick M, Hoffman S, Blouin R, Brandt C, Coppola G, Biesecker LG, Batish SD, Meisler MH. Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P 2 phosphatase FIG4. Brain , 2011, 134(7): 1959-1971. [44] Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH. Deleterious variants of FIG4 , a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet , 2009, 84(1): 85-88. [45] Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS, Meisler MH. Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. PLoS Genet , 2011, 7(6): e1002104. [46] Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E. Autosomal-recessive forms of demyelinating Charcot-Marie- Tooth disease. Neuromolecular Med , 2006, 8(1-2): 75-86. (责任编委: 夏昆) |