Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients

Journal of the Peripheral Nervous System

Volumn 14, Issue 2, 2009, Pages 125-136

  Keckarevic Markovic, Milica ^a   Milic Rasic, Vedrana ^b   Mladenovic, Jelena ^b   Dackovic, Jelena ^c   Kecmanovic, Miljana ^a   Keckarevic, Dusan ^a   Savic Pavicevic, Dusanka ^a   Romac, Stanka ^a  

^a UNIVERSITY OF BELGRADE   (Serbia)

^b Clinic of Neurology and Psychiatry for Children and Youth   (Serbia)

^c Institute of Neurology   (Serbia)

Author keywords

CMT; GJB1; MPZ; Mutation; PMP22

Indexed keywords

DNA;

ADULT; AGED; ARTICLE; CHILD; CONTROLLED STUDY; DISEASE TRANSMISSION; DNA ISOLATION; EGR2 GENE; FEMALE; GENE; GENE MUTATION; GJB1 GENE; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LITAF GENE; MAJOR CLINICAL STUDY; MALE; MPZ GENE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PMP22 GENE; POPULATION; PRIORITY JOURNAL; SCREENING; SERBIA; SIMPLE GENE;

ADOLESCENT; ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; CONNEXINS; DNA MUTATIONAL ANALYSIS; EARLY GROWTH RESPONSE PROTEIN 2; FEMALE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUTATION; MYELIN P0 PROTEIN; MYELIN PROTEINS; NUCLEAR PROTEINS; SERBIA; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 69249132061     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2009.00222.x     Document Type: Article

References (49)

1. Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH (1993). Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262:2039-2042. (Pubitemid 24041884)
2. Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR (2002). Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype - phenotype correlation. Ann Neurol 51:190-201. (Pubitemid 34111441)
3. Bone LJ, Deschênes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS (1997). Connexin32 and X-linked Charcot-Marie- Tooth disease. Neurobiol Dis 4:221-230.
4. Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martínez A, Martínez F, Millán JM, Arpa J, Vílchez JJ, Prieto F, Van Broeckhoven C, Palau F (1997). Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. Hum Genet 99:746-754. (Pubitemid 27243752)
5. 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. (Pubitemid 23029701)
6. Choi BO, Lee MS, Shin SH, Hwang JH, Choi KG, Kim WK, Sunwoo IN, Kim NK, Chung KW (2004). Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot- Marie-Tooth neuropathy patients. Hum Mutat 24:185-186.
7. Dahl G, Werner R, Levine E, Rabadan-Diehl C (1992). Mutational analysis of gap junction formation. Biophys J 62:172-180; discussion 180-182.
8. De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V (2001). Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol 49:245-249. (Pubitemid 32158001)
9. Dyck PJ, Chance P, Lebo R, Carney JA (1993). Hereditary motor and sensory neuropathies. In: Peripheral Neuropathy. Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (Eds). Saunders, Philadelphia, pp 1096-1136.
10. Fabrizi GM, Taioli F, Cavallaro T, Rigatelli F, Simonati A, Mariani G, Perrone, Rizzuto N (2000). Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero. Acta Neuropathol 100:299-304. (Pubitemid 30456157)
11. Grandis M, Vigo T, Passalacqua M, Jain M, Scazzola S, La Padula V, Brucal M, Benvenuto F, Nobbio L, Cadoni A, Mancardi GL, Kamholz J, Shy ME, Schenone A (2008). Different cellular and molecular mechanisms for early and lateonset myelin protein zero mutations. Hum Mol Genet 17:1877-1889. (Pubitemid 351865837)
12. Grskovic B, Ferencak G, Rukavina AS, Karija M, Furac I, Kubat M (2002). Mutation analysis of the MPZ and PMP22 genes in Croatian patients. Clin Chem Lab Med 40:559-562. (Pubitemid 34855120)
13. Haites NE, Nelis E, Van Broeckhoven C (1998). 3rd workshop of the European CMT consortium: 54th ENMC international workshop on genotype/phenotype correlations in Charcot- Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies, 28-30 November 1997, Naarden, The Netherlands. Neuromuscul Disord 8:591-603. (Pubitemid 28555743)
14. Huehne K, Benes V, Thiel C, Kraus C, Kress W, Hoeltzenbein M, Ploner CJ, Kotzian J, Reis A, Rott HD, Rautenstrauss BW (2003). Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. Hum Mutat 21:100.
15. Kleopa K, Scherer SS (2006). Molecular genetics of Xlinked Charcot-Marie-Tooth disease. Neuromolecular Med 8:107-122. (Pubitemid 43918169)
16. Latour P, Blanquet F, Nelis E, Bonnebouche C, Chapon F, Diraison P, Ollagnon E, Dautigny A, Pham-Dinh D, Chazot G, Boucherat M, Van Broeckhoven C, Vandenberghe A (1995). Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B. Hum Mutat 6:50-54.
17. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI (1991). DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219-232. (Pubitemid 121001361)
18. Magot A, Latour P, Mussini JM, Mourtada R, Guiheneuc P, Pereon Y (2008). A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression. Muscle Nerve 38:1055-1059.
19. Marques W Jr, Sweeney MG, Wood NW (2003). Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie- Tooth disease type 1A due to the 17p11.2-p12 duplication. Braz J Med Biol Res 36:1403-1407.
20. Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Hanemann CO, M̈ uller HW, Bird TD, White R, Chance PF (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. Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV (2000a). A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 67:37-46.
22. Mersiyanova IV, Ismailov SM, Polyakov AV, Dadali EL, Fedotov VP, Nelis E, L ̈ ofgren A, Timmerman V, van Broeckhoven C, Evgrafov OV (2000b). Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Hum Mutat 15:340-347 [Erratum: Hum Mutat (2000) 16:175].
23. Mostacciuolo ML, Righetti E, Zortea M, Bosello V, Schiavon F, Vallo L, Merlini L, Siciliano G, Fabrizi GM, Rizzuto N, Milani M, Baratta S, Taroni F (2001). Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families. Hum Mutat 18:32-41. (Pubitemid 32588476)
24. Nelis E, Holmberg B, Adolfsson R, Holmgren G, van Broeckhoven C (1994a). PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism? Nat Genet 15:13-14.
25. Nelis E, Timmerman V, De Jonghe P, Vandenberghe A, Pham- Dinh D, Dautigny A, Martin JJ, Van Broeckhoven C (1994b). Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene. Hum Genet 94:653-657. (Pubitemid 24351523)
26. Nelis E, Van Broeckhoven C, De Jonghe P, Löfgren A, Vandenberghe A, Latour P, Le Guern E, Brice A, Mostacciuolo ML, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus ML, Navon R, Goldberg-Stern H, Estivill X, Volpini V, Friedl W, Gal A (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. (Pubitemid 26094167)
27. Nicholson GA (1999). Mutation testing in Charcot-Marie-Tooth neuropathy. Ann NY Acad Sci 883:383-388.
28. Nicholson G, Nash J (1993). Intermediatevnerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology 43:2558-2564. (Pubitemid 24004545)
29. Numakura C, Lin C, Ikegami T, Guldberg P, Hayasaka K (2002). Molecular analysis in Japanese patients with Charcot- Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. Hum Mutat 20:392-398. (Pubitemid 35285058)
30. Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U (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.
31. Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA, Van Broeckhoven C (1991). Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord 1:93-97.
32. Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, Ortiz-Lopez R, Shooter EM, Patel PI, Lupski JR (1993). Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nat Genet 5: 189-194. (Pubitemid 23293457)
33. Roa BB, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR (1996). Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Hum Mutat 7:36-45. (Pubitemid 126664453)
34. Saifi GM, Szigeti K, Wiszniewski W, Shy ME, Krajewski K, Hausmanowa-Petrusewicz I, Kochanski A, Reeser S, Mancias P, Butler I, Lupski JR (2005). SIMPLE mutations in Charcot- Marie-Tooth disease and the potential role of its protein product in protein degradation. Hum Mutat 25:372-383. (Pubitemid 40524665)
35. Scherer SS, Wrabetz L (2008). Molecular mechanisms of inherited demyelinating neuropathies. Glia 56:1578-1589.
36. Seeman P, Mazanec R, Marikova T, Rautenstrauss B (1999). Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype. Ann N Y Acad Sci 883:485-489. (Pubitemid 129495464)
37. Shy ME, Jáni A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J (2004). Phenotypic clustering in MPZ mutations. Brain 127: 371-384.
38. Shy ME, Lupski JR, Chance PF, Klein CJ, Dyck PJ (2005). Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features. In: Peripheral Neuropathy, 4th Edn. Dyck PJ, Thomas PK (Eds). Saunders, Philadelphia, pp 1623-1658.
39. Shy ME, Scavina MT, Clark A, Krajewski KM, Li J, Kamholz J, Kolodny E, Szigeti K, Fischer RA, Saifi GM, Scherer SS, Lupski JR (2006). T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Ann Neurol 59:358-364. (Pubitemid 43202490)
40. Shy ME, Siskind C, Swan ER, Krajewski KM, Doherty T, Fuerst DR, Ainsworth PJ, Lewis RA, Scherer SS, Hahn AF (2007). CMT1X phenotypes represent loss of GJB1 gene function. Neurology 68:849-855. (Pubitemid 46568537)
41. Silander K, Meretoja P, Juvonen V, Ignatius J, Pihko H, Saarinen A, Wallden T, Herrg Ård E, Aula P, Savontaus ML (1998). Spectrum of mutations in Finnish patients with Charcot- Marie-Tooth disease and related neuropathies. Hum Mutat 12:59-68. (Pubitemid 28262226)
42. Stronach EA, Clark C, Bell C, Löfgren A, McKay NG, Timmerman V, Van Broeckhoven C, Haites NE (1999). Novel PCRbased diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies. J Peripher Nerv Syst 4:117-122. (Pubitemid 29362397)
43. Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO, De Jonghe P, Raeymaekers P, Van Ommen GB, Martin J, Muller HW, Vance JM, Fischbeck KH, Van Broeckhoven C (1992). The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1:171-175 [Erratum: Nat Genet (1992) 2:84].
44. Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C (1999). Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology 52: 1827-1832. (Pubitemid 29260896)
45. Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE, van den Bosch N, Hensels GW, Stanton VP Jr, Housman DE, Fischbeck KH, Ross DA, Nicholson GA, Meershoek EJ, Dauwerse HG, Van Ommen GB, Baas F (1992). The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie- Tooth disease type 1A. Nat Genet 1:166-170.
46. Wrabetz L, Feltri ML, Kleopa KA, Scherer SS (2004). Inherited neuropathies: clinical, genetic, and biological features. In: Myelin Biology and Disorders. Lazzarini RA (Ed). Elsevier Academic Press, San Diego, pp 905-951.
47. Xu W, Shy M, Kamholz J, Elferink L, Xu G, Lilien J, Balsamo J (2001). Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination. J Cell Biol 155:439-446. (Pubitemid 34289334)
48. Young P, Stogbauer F, Eller B, de Jonghe P, Lofgren A, Timmerman V, Rautenstrauss B, Oexle K, Grehl H, Kuhlenbaumer G, Van Broeckhoven C, Ringelstein EB, Funke H (2000). PMP22 Thr118Met is not a clinically relevant CMT1 marker. J Neurol 247:696-700. (Pubitemid 30781336)
49. Young P, Grote K, Kuhlenbäumer G, Debus O, Kurlemann H, Halfter H, Funke H, Ringelstein EB, Stögbauer F (2001). Mutation analysis in Charcot-Marie-Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity. J Neurol 248:410-415. (Pubitemid 32477334)