A novel Gly137Asp MPZ mutation in a Charcot-Marie-Tooth disease type 1B family

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• 作者：Eun Kyung Park (1)
  Ki Wha Chung (2)
  Kyu Sun Lee (1)
  Hye Jin Lee (2)
  Bo Ram Yun (2)
  Je-Nyun Kim (3)
  Jong Hyu Shin (3)
  Byung-Ok Choi (1)
  
• 关键词：Charcot ; Marie ; Tooth disease (CMT) ; MPZ Mutation ; Korean
• 刊名：Genes & Genomics
• 出版年：2011
• 出版时间：December 2011
• 年：2011
• 卷：33
• 期：6
• 页码：659-664
• 全文大小：300KB
• 参考文献：1. Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon MC, L茅ger JM, Agid Y, et al. (1998) X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology 50: 1074鈥?082.
  2. Bouche P, Gherardi R, Cathala HP, Lhermite F and Castaigne P (1983) Peroneal muscular atrophy. Part I. Clinical and electrophysiological study. J. Neurol. Sci. 61: 389鈥?99. p://dx.doi.org/10.1016/0022-510X(83)90172-7">CrossRef
  3. Choi BO, Kim J, Lee KL, Yu JS, Hwang JH and Chung KW (2007) Mol Cells: Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR. Mol. Cells. 23: 39鈥?8.
  4. Eklund E, Svensson E and Hager-Ross C (2009) Hand function and disability of the arm, shoulder and hand in Charcot-Marie-Tooth disease. Disabil. Rehabil. 31:1955鈥?962. p://dx.doi.org/10.1080/09638280902874170">CrossRef
  5. Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM and Chance PF (1993) Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat. Genet. 5: 31鈥?4. p://dx.doi.org/10.1038/ng0993-31">CrossRef
  6. Lee YC, Lin KP, Chang MH, Liao YC, Tsai CP, Liao KK and Soong BW (2010) Cellular characterization of / MPZ mutations presenting with diverse clinical phenotypes. J. Neurol. 257: 1661鈥?668. p://dx.doi.org/10.1007/s00415-010-5590-8">CrossRef
  7. Lemke G and Axel R (1985) Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin. Cell 40: 501鈥?08. p://dx.doi.org/10.1016/0092-8674(85)90198-9">CrossRef
  8. Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A and Patel PI (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66: 219鈥?32. p://dx.doi.org/10.1016/0092-8674(91)90613-4">CrossRef
  9. Marques W Jr, Hanna MG, Marques SR, Sweeney MG, Thomas PK and Wood NW (1999) Phenotypic variation of a new novel P0 mutation in genetically identical twins. J.Neurol. 246: 596鈥?99. p://dx.doi.org/10.1007/s004150050410">CrossRef
  10. Mazzeo A, Muglia M, Rodolico C, Toscano A, Patitucci A, Quattrone A, Messina C and Vita G (2008) Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families. Acta. Neurol. Scand. 118: 328鈥?32. p://dx.doi.org/10.1111/j.1600-0404.2008.01021.x">CrossRef
  11. Roa BB, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF and Lupski JR (1996) Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Hum. Mutat. 7: 36鈥?5. p://dx.doi.org/10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N">CrossRef
  12. Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, Li J, Lewis RA and Reilly M (2005)Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 64: 1209鈥?214. p://dx.doi.org/10.1212/01.WNL.0000156517.00615.A3">CrossRef
  13. Shy ME, J谩ni A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, et al. (2004) Phenotypic clustering in / MPZ mutations. Brain 127: 371鈥?84. p://dx.doi.org/10.1093/brain/awh048">CrossRef
  14. Skre H (1974) Genetic and clinical aspects of Charcot-Marie-Tooth鈥檚 disease. Clin. Genet. 6: 98鈥?18. p://dx.doi.org/10.1111/j.1399-0004.1974.tb00638.x">CrossRef
  15. Szabo A, Z眉chner S, Siska E, Mechler F and Molnar MJ (2005) Marked phenotypic variation in a family with a new myelin protein zero mutation. Neuromuscul. Disord. 15: 760鈥?63. p://dx.doi.org/10.1016/j.nmd.2005.07.006">CrossRef
  16. Zsch眉ntzsch J, Dibaj P, Pilgram S, K枚tting J, Gerding WM and Neusch C (2009) Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift mutation within the intracellular domain of myelin protein zero ( / MPZ/P0). J. Neurol. Sci. 281: 113鈥?15. p://dx.doi.org/10.1016/j.jns.2009.03.008">CrossRef
  
• 作者单位：Eun Kyung Park (1)
  Ki Wha Chung (2)
  Kyu Sun Lee (1)
  Hye Jin Lee (2)
  Bo Ram Yun (2)
  Je-Nyun Kim (3)
  Jong Hyu Shin (3)
  Byung-Ok Choi (1)
  
  1. Department of Neurology, Ewha Womans University, School of Medicine, Seoul, Korea
  2. Department of Biological Science and Research Center for Biotechnology, Kongju National University, Gongju, Chungnam, Korea
  3. Department of Bioinformatics, Kongju National University, Gongju, Chungnam, Korea
  

文摘

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous peripheral neuropathy. Myelin protein zero (MPZ) is a major myelin protein of the peripheral nerve and mutations in its gene cause a wide phenotypic spectrum including CMT1B, CMT2I, CMT2J and Dejerine-Sottas syndrome. The objective of this study was to find the causative mutation in a Korean large autosomal dominant demyelinating CMT family (FC240). Clinical disabilities were measured by a functional disability scale (FDS), a CMT neuropathy score (CMTNS), and a 9-hole peg test (9-HPT). Mutational analysis of the FC240 family revealed a novel c.410G>A (Gly137Asp) mutation in the MPZ gene. The mutation was completely co-segregated with affected members in the family, and was not found in controls. The clinical features and electrophysiological findings were compatible with CMT1B. Clinical symptoms revealed phenotypic diversities among family members and generations within the same family. In addition, the present patients with Gly137Asp mutation showed earlier age at onset and slow progression than the reported patient with Gly137Ser. Therefore, it seems that there were wide phenotypic variations within the same family harboring Gly137Asp mutation, and between Gly137Asp and Gly137Ser mutations.