Missense mutations of mitofusin 2 in axonal Charcot-Marie-Tooth neuropathy: Polymorphic or incomplete penetration?

Animal Cells and Systems

Volumn 17, Issue 4, 2013, Pages 228-236

  Nakhro, Khriezhanuo ^a   Park, Jin Mo ^b   Choi, Byung Ok ^b   Chung, Ki Wha ^a  

^a Kongju National University   (South Korea)

^b Ewha Womans University School of Medicine   (South Korea)

Author keywords

Charcot Marie Tooth disease type 2A; incomplete penetrance; MFN2; polymorphism

Indexed keywords

EID: 84884500699     PISSN: 19768354     EISSN: 21512485     Source Type: Journal    
DOI: 10.1080/19768354.2013.814587     Document Type: Article

References (31)

1. Ajroud-Driss S, Fecto F, Ajroud K, Yang Y, Donkervoort S, Siddique N, Siddique T. 2009. A novel de novoMFN2 mutation causing CMT2A with upper motor neuron signs. Neurogenetics. 10:359-361.
2. Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H, Strobl-Wildemann G, Auer-Grumbach P, Fischer R, Offenbacher H, Zwick EB, Robl T, Hartl G, et al. 2005. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol. 57:415-424.
3. Baloh RH, Schmidt RE, Pestronk A, Milbrandt J. 2007. Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. J Neurosci. 27:422-430.
4. Ben Othmane K, Middleton LT, Loprest LJ, Wilkinson KM, Lennon F, Rozear MP, Stajich JM, Gaskell PC, Roses AD, Pericak-Vance MA, Vance JM. 1993. Localization of a gene (CMT2A) for autosomal dominant Charcot- Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics. 17:370-375.
5. Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon MC, Léger JM, Agid Y, et al. 1998. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology. 50:1074-1082.
6. Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, Croaker D, Buys CH, Lyonnet S, Chakravarti A. 2000. A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci USA. 97:268-273.
7. Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, et al. 2007. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain. 130:828-835.
8. Byrne PC, Webb S, McSweeney F, Burke T, Hutchinson M, Parfrey NA. 1998. Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance. Eur J Hum Genet. 6:275-282.
9. Cafforio G, Calabrese R, Morelli N, Mancuso M, Piazza S, Martinuzzi A, Bassi MT, Crippa F, Siciliano G. 2008. The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation. Neurol Sci. 29:189-191.
10. Choi B-O, Park M-H, Chung KW, Woo H-M, Koo HS, Chung H-K, Choi K-G, Park KD, Lee HJ, Hyun YS, Koo SK. 2013. Clinical and histopathologic study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL 2. Neurogenetics. 14:35-42.
11. Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, Suh JS, Hwang JH, Kim WK. 2006. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain. 129:2103-2118.
12. Chung KW, Suh BC, Cho SY, Choi SK, Kang SH, Yoo JH, Hwang JY, Choi BO. 2010. Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement. J Neurol Neurosurg Psychiatry. 81:1203-1206.
13. Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, Bornholdt D, Devriendt K, Grzeschik KH, Fryns JP, et al. 2003. Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. Am J Med Genet. 120A:49-58.
14. de Brito OM, Scorrano L. 2008. Mitofusin 2 tethers endoplasmic reticulum to mitochondria. Nature. 456:605-610.
15. Kim DC. 2012. Malignant hyperthermia. Korean J Anesthesiol. 63:391-401.
16. Knott AB, Perkins G, Schwarzenbacher R, Bossy-Wetzel E. 2008. Mitochondrial fragmentation in neurodegeneration. Nat Rev Neurosci. 9:505-518.
17. Lalucque H, Silar P. 2004. Incomplete penetrance and variable expressivity of a growth defect as a consequence of knocking out two K(+) transporters in the euascomycete fungus Podosporaanserina. Genetics. 166:125-133.
18. Lee JH, Kang HJ, Song H, Hwang SJ, Cho SY, Kim SB, Kim J, Chung KW, Choi BO. 2007. A family harboring CMT1A duplication and HNPP deletion. J Clin Neurol. 3:101-104.
19. Liu XR, Wu M, He N, Meng H, Wen L, Wang JL, Zhang MP, Li WB, Mao X, Qin JM, et al. 2013. Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes. Genes Brain Behav. 12:234-240.
20. Misko A, Jiang S, Wegorzewska I, Milbrandt J, Baloh RH. 2010. Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex. J Neurosci. 30:4232-4240.
21. Otterson GA, Chen WD, Coxon AB, Khleif SN, Kaye FJ. 1997. Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function. Proc Natl Acad Sci USA. 94:12036-12040.
22. Ouvrier R, Grew S. 2010. Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults. Dev Med Child Neurol. 52:328-330.
23. Polke JM, Laurá M, Pareyson D, Taroni F, Milani M, Bergamin G, Gibbons VS, Houlden H, Chamley SC, Blake J, et al. 2011. Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. Neurology. 77:168-173.
24. 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.
25. Tamura K, Peterson D, Peterson N, Stecher G, Nei M, Kumar S. 2011. MEGA5: molecular evolutionary genetics analysis using maximum likelihood, evolutionary distance, and maximum parsimony methods. Mol Biol Evol. 28:2731-2739.
26. Valvo G, Novara F, Brovedani P, Ferrari AR, Guerrini R, Zuffardi O, Sicca F. 2012. 22q11.2 Micro duplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature. Epilepsy Behav. 25:567-572.
27. van der Smagt JJ, van der Zwaag PA, van Tintelen JP, Cox MG, Wilde AA, van Langen IM, Ummels A, Hennekam FA, Dooijes D, Gerbens F, et al. 2012. Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation. Cardiology. 123:181-189.
28. Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, et al. 2006. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain. 129:2093-2102.
29. Zhu D, Kennerson ML, Walizada G, Züchner S, Vance JM, Nicholson GA. 2005. Charcot-Marie Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. Neurology. 65:496-497.
30. Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, et al. 2006. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol. 59:276-281.
31. Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, et al. 2004. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet. 36:449-451.