Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12 |
Kanwal, Sumaira
(Department of Biological Science and Research Institute of Biotechnology, Kongju National University)
Choi, Byung-Ok (Department of Neurology, Ewha Womans University, School of Medicine) Kim, Sang-Beom (Department of Neurology, Kyung Hee University, School of Medicine) Koo, Hea-Soo (Department of Pathology, Ewha Womans University, School of Medicine) Kim, Jee-Young (Department of Neurology, Ewha Womans University, School of Medicine) Hyun, Young-Se (Department of Biological Science and Research Institute of Biotechnology, Kongju National University) Lee, Hye-Jin (Department of Biological Science and Research Institute of Biotechnology, Kongju National University) Chung, Ki-Wha (Department of Biological Science and Research Institute of Biotechnology, Kongju National University) |
1 | Szabo A, Zu¨chner S, Siska E, Mechler F, Molnar MJ. 2005. Marked phenotypic variation in a family with a new myelin protein zero mutation. Neuromuscul Disord. 15:760-763. DOI ScienceOn |
2 | Szigeti K, Garcia CA, Lupski JR. 2006. Charcot-Marie- Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genet Med. 8:86-92. DOI ScienceOn |
3 | Weterman MA, van Ruissen F, de Wissel M, Bordewijk L, Samijn JP, van der Pol WL, Meggouh F, Baas F. 2010. Copy number variation upstream of PMP22 in Charcot- Marie-Tooth disease. Eur J Hum Genet 18:421-428. DOI ScienceOn |
4 | Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR. 2009. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet. 41:849-853. DOI ScienceOn |
5 | Zhang F, Seeman P, Liu P,Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR. 2010. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet. 86:892-903. DOI ScienceOn |
6 | Shy ME, Ja`ni 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. DOI |
7 | Mazzeo A, Muglia M, Rodolico C, Toscano A, Patitucci A, Quattrone A, Messina C, Vita G. 2008. Charcot-Marie- Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families Acta Neurol Scand.118:328-332. DOI ScienceOn |
8 | Nelis E, Van Broeckhoven C, De Jonghe P, Lofgren 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, et al. 1996. Estimation of the mutation frequencies in CharcotMarieTooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet. 4:25-33. DOI |
9 | Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. 1992. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet. 2:292-300. DOI ScienceOn |
10 | Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR. 1997. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum Mol Genet. 6: 1595-1603. DOI |
11 | Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, Li J, Lewis RA, Reilly M. 2005. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology. 64:1209-1214. DOI ScienceOn |
12 | Lee JA, Carvalho CM, Lupski JR. 2007. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell. 131:1235-1247. DOI ScienceOn |
13 | Huang J, Wu X, Montenegro G, Price J, Wang G, Vance JM, Shy ME, Zu¨chner S. 2010. Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. J Neurol. 257:735-741. DOI ScienceOn |
14 | Kleopa KA, Georgiou D-M, Nicolaou P, Koutsou P, Papathanasiou E, Kyriakides T, Christodoulou K. 2004. A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. Neurogenetics. 5:171-175. DOI ScienceOn |
15 | Lee JH, Choi BO. 2006. Charcot-Marie-Tooth disease: seventeen causative genes. J Clin Neurol. 2:92-106. DOI ScienceOn |
16 | Lee YC, Lin KP, Chang MH, Liao YC, Tsai CP, Liao KK, Soong BW. 2010. Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes. J Neurol. 257:1661-1668. DOI ScienceOn |
17 | Birouk N, Gouider R, Le Guern E, Gugenheim M, Tardieu S, Maisonobe T, Le Forestier N, Agid Y, Brice A, Bouche P. 1997. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain. 120:813-823. DOI |
18 | 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. DOI ScienceOn |
19 | Mariman EC, Gabreels-Festen AA, van Beersum SE, Valentijn LJ, Baas F, Bolhuis PA, Jongen PJ, Ropers HH, Gabree¨ls FJ. 1994. Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. Ann Neurol. 36:650-655. DOI ScienceOn |
20 | Ahn D-H, Park M-H, Jung J-H, Oh M-J, Kim S, Jung J, Min G-S. 2011. Isolation and characterization of microsatellite loci in the Korean crayfish, Cambaroides similis and application to natural population analysis. Anim Cells Syst. 15:37-43. DOI |
21 | Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon MC, Le'ger JM, Agid Y, Brice A, Bouche P. 1998. X-linked Charcot-Marie- Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology. 50:1074-1082. DOI ScienceOn |
22 | 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. DOI ScienceOn |
23 | Choi BO, Kim J, Lee KL, Yu JS, Hwang JH, Chung KW. 2007. Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR. Mol Cells. 23:39-48. |
24 | Hoogendijk JE, Hensels GW, Gabreels-Festen AA, Gabreels FJ, Janssen EA, de Jonghe P, Martin JJ, van Broeckhoven C, Valentijn LJ, Baas F, et al. 1992. De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet. 339:1081-1082. DOI ScienceOn |
25 | Choi BO, Kim NK, Park SW, Hyun YS, Jeon HJ, Hwang JH, Chung KW. 2011. Inheritance of Charcot-Marie-Tooth Disease 1A with rare nonrecurrent genomic rearrangement. Neurogenetics. 11:425-433. |
26 | Harding AE, Thomas PK. 1980. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain. 103:259-280 DOI ScienceOn |