CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

Human Molecular Genetics

Volumn 24, Issue 4, 2015, Pages 987-993

  Groen, Justus L ^a,b   Andrade, Arturo ^c   Ritz, Katja ^a   Jalalzadeh, Hamid ^a   Haagmans, Martin ^a   Bradley, Ted E J ^a   Jongejan, Aldo ^a   Verbeek, Dineke S ^d   Nürnberg, Peter ^e   Denome, Sylvia ^c   Hennekam, Raoul C M ^a   Lipscombe, Diane ^c   Baas, Frank ^a   Tijssen, Marina A J ^d  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c BROWN UNIVERSITY   (United States)

^d UNIVERSITY OF GRONINGEN   (Netherlands)

^e UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

VOLTAGE GATED CALCIUM CHANNEL; CACNA1B PROTEIN, HUMAN; CALCIUM CHANNEL N TYPE;

ARTICLE; CACNA1B GENE; CLINICAL ASSESSMENT; ELECTROPHYSIOLOGY; EXOME; GENE; HEART ARRHYTHMIA; HUMAN; LINKAGE ANALYSIS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYOCLONUS DYSTONIA; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; ACTION POTENTIAL; CALCIUM SIGNALING; DYSTONIC DISORDERS; FEMALE; GENETIC ASSOCIATION STUDY; GENETIC LINKAGE; GENETICS; HIGH THROUGHPUT SEQUENCING; MALE; METABOLISM; MUTATION; PATCH CLAMP TECHNIQUE; PEDIGREE;

ACTION POTENTIALS; CALCIUM CHANNELS, N-TYPE; CALCIUM SIGNALING; DYSTONIC DISORDERS; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; PATCH-CLAMP TECHNIQUES; PEDIGREE; PHENOTYPE;

EID: 84922426329     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu513     Document Type: Article

References (30)

1. Klein, C. (2003) Myoclonus and myoclonus-dystonia. Academic Press, Elsevier Science, San Diego, USA
2. Roze, E., Apartis, E., Clot, F., Dorison, N., Thobois, S., Guyant-Marechal, L., Tranchant, C., Damier, P., Doummar, D., Bahi-Buisson, N. et al. (2008) Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. Neurology, 70, 1010-1016.
3. Hess, C.W., Raymond, D., Aguiar, P.C., Frucht, S., Shriberg, J., Heiman, G.A., Kurlan, R., Klein, C., Bressman, S.B., Ozelius, L.J. and Saunders-Pullman, R. (2007) Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence inSGCEmutation carriers. Neurology, 68, 522-524.
4. van Tricht, M.J., Dreissen, Y.E., Cath, D., Dijk, J.M., Contarino, M.F., van der Salm, S.M., Foncke, E.M., Groen, J.L., Schmand, B. and Tijssen, M.A. (2012) Cognition and psychopathology in myoclonus-dystonia. J. Neurol. Neurosurg. Psychiatry, 83, 814-820.
5. Ritz, K., Gerrits, M.C., Foncke, E.M., van der Linden, C., Vergouwen, M.D., Bloem, B.R., Vandenberghe, W., Crols, R., Speelman, J.D., Baas, F. and Tijssen, M.A. (2009) Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. J. Neurol. Neurosurg. Psychiatry, 80, 653-658.
6. Zimprich, A., Grabowski, M., Asmus, F., Naumann, M., Berg, D., Bertram, M., Scheidtmann, K., Kern, P., Winkelmann, J., Muller-Myhsok, B. et al. (2001) Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat. Genet., 29, 66-69.
7. Carecchio, M., Magliozzi, M., Copetti, M., Ferraris, A., Bernardini, L., Bonetti, M., Defazio, G., Edwards, M.J., Torrente, I., Pellegrini, F. et al. (2013) Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria. Mov. Disord., 28, 787-794.
8. Groen, J., van Rootselaar, A.F., van der Salm, S.M., Bloem, B.R. and Tijssen, M. (2011) A new familial syndrome with dystonia and lower limb action myoclonus. Mov. Disord., 26, 896-900.
9. Lipscombe, D., Allen, S.E. and Toro, C.P. (2013) Control of neuronal voltage-gated calcium ion channels fromRNAto protein. Trends Neurosci., 36, 598-609.
10. Carrera, P., Piatti, M., Stenirri, S., Grimaldi, L.M., Marchioni, E., Curcio, M., Righetti, P.G., Ferrari, M. and Gelfi, C. (1999) Genetic heterogeneity in Italian families with familial hemiplegic migraine. Neurology, 53, 26-33.
11. Jen, J., Wan, J., Graves, M., Yu, H., Mock, A.F., Coulin, C.J., Kim, G., Yue, Q., Papazian, D.M. and Baloh, R.W. (2001) Loss-of-functionEA2mutations are associated with impaired neuromuscular transmission. Neurology, 57, 1843-1848.
12. Kraus, R.L., Sinnegger, M.J., Koschak, A., Glossmann, H., Stenirri, S., Carrera, P. and Striessnig, J. (2000) Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics. J. Biol. Chem., 275, 9239-9243.
13. Beuckmann, C.T., Sinton, C.M., Miyamoto, N., Ino, M. and Yanagisawa, M. (2003) N-type calcium channel alpha1B subunit (Cav2.2) knock-out mice display hyperactivity and vigilance state differences. J. Neurosci., 23, 6793-6797.
14. 2+ channel. EMBO J., 20, 2349-2356.
15. Doyle, D.A., Morais, C.J., Pfuetzner, R.A., Kuo, A., Gulbis, J.M., Cohen, S.L., Chait, B.T. and MacKinnon, R. (1998) The structure of the potassium channel: molecular basis of K+ conduction and selectivity. Science, 280, 69-77.
16. Payandeh, J., Scheuer, T., Zheng, N. and Catterall, W.A. (2011) The crystal structure of a voltage-gated sodium channel. Nature, 475, 353-358.
17. Castiglioni, A.J., Raingo, J. and Lipscombe, D. (2006) Alternative splicing in the C-terminus of CaV2.2 controls expression and gating of N-type calcium channels. J. Physiol., 576, 119-134.
18. Mochida, S., Westenbroek, R.E., Yokoyama, C.T., Zhong, H., Myers, S.J., Scheuer, T., Itoh, K. and Catterall, W.A. (2003) Requirement for the synaptic protein interaction site for reconstitution of synaptic transmission by P/Q-type calcium channels. Proc. Natl. Acad. Sci. USA, 100, 2819-2824.
19. Poncer, J.C., McKinney, R.A., Gahwiler, B.H. and Thompson, S.M. (1997) Either N-or P-type calcium channels mediate GABA release at distinct hippocampal inhibitory synapses. Neuron, 18, 463-472.
20. Hess, P., Prod'hom, B. and Pietrobon, D. (1989) Mechanisms of interaction of permeant ions and protons with dihydropyridine-sensitive calcium channels. Ann. NY Acad. Sci., 560, 80-93.
21. Pietrobon, D., Prod'hom, B. and Hess, P. (1988) Conformational changes associated with ion permeation in L-type calcium channels. Nature, 333, 373-376.
22. Pietrobon, D., Prod'hom, B. and Hess, P. (1989) Interactions of protons with single open L-type calcium channels. pH dependence of proton-induced current fluctuations with Cs+, K+, and Na+ as permeant ions. J. Gen. Physiol., 94, 1-21.
23. Yang, J., Yu, M., Jan, Y.N. and Jan, L.Y. (1997) Stabilization of ion selectivity filter by pore loop ion pairs in an inwardly rectifying potassium channel. Proc. Natl Acad. Sci. USA, 94, 1568-1572.
24. Tottene, A., Fellin, T., Pagnutti, S., Luvisetto, S., Striessnig, J., Fletcher, C. and Pietrobon, D. (2002) Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons. Proc. Natl Acad. Sci. USA, 99, 13284-13289.
25. Yamaguchi, M., Nakayama, T., Fu, Z., Sato, N., Soma, M., Morita, A., Hinohara, S., Doba, N. and Mizutani, T. (2010) The haplotype of the CACNA1B gene associated with cerebral infarction in a Japanese population. Hereditas, 147, 313-319.
26. Curtis, D., Vine, A.E., McQuillin, A., Bass, N.J., Pereira, A., Kandaswamy, R., Lawrence, J., Anjorin, A., Choudhury, K., Datta, S.R. et al. (2011) Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes. Psychiatr. Genet., 21, 1-4.
27. Glessner, J.T., Reilly, M.P., Kim, C.E., Takahashi, N., Albano, A., Hou, C., Bradfield, J.P., Zhang, H., Sleiman, P.M., Flory, J.H. et al. (2010) Strong synaptic transmission impact by copy number variations in schizophrenia. Proc. Natl Acad. Sci. USA, 107, 10584-10589.
28. Wang, K., Li, M. and Hakonarson, H. (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucl. Acids Res., 38, e164.
29. Lipscombe, D., Andrade, A. and Allen, S.E. (2013) Alternative splicing: functional diversity among voltage-gated calcium channels and behavioral consequences. Biochim. Biophys. Acta, 1828, 1522-1529.
30. Raingo, J., Castiglioni, A.J. and Lipscombe, D. (2007) Alternative splicing controls G protein-dependent inhibition of N-type calcium channels in nociceptors. Nat. Neurosci., 10, 285-292.