De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with dravet syndrome

American Journal of Human Genetics

Volumn 93, Issue 5, 2013, Pages 967-975

  Suls, Arvid ^a,b   Jaehn, Johanna A ^c   Kecskés, Angela ^d   Weber, Yvonne ^e   Weckhuysen, Sarah ^a,b   Craiu, Dana C ^f,g   Siekierska, Aleksandra ^d   Djémie, Tania ^a,b   Afrikanova, Tatiana ^d   Gormley, Padhraig ^h   Von Spiczak, Sarah ^c   Kluger, Gerhard ⁱ   Iliescu, Catrinel M ^f,g   Talvik, Tiina ^j,k   Talvik, Inga ^j,k   Meral, Cihan ^l   Caglayan, Hande S ^m   Giraldez, Beatriz G ⁿ   Serratosa, José ⁿ   Lemke, Johannes R ^o   Hoffman Zacharska, Dorota ^p   Szczepanik, Elzbieta ^p   Barisic, Nina ^q   Komarek, Vladimir ^r   Hjalgrim, Helle ^s,t   Møller, Rikke S ^s   Linnankivi, Tarja ^u   Dimova, Petia ^v   Striano, Pasquale ^w   Zara, Federico ^x   Marini, Carla ^y   Guerrini, Renzo ^y   Depienne, Christel ^z,aa,ac   Baulac, Stéphanie ^z,aa,ab   Kuhlenbäumer, Gregor ^c   Crawford, Alexander D ^d,ad   Lehesjoki, Anna Elina ^ae,af   De Witte, Peter A M ^d   Palotie, Aarno ^h,af,ag   Lerche, Holger ^e   Esguerra, Camila V ^d   De Jonghe, Peter ^a,b   Helbig, Ingo ^c   more..

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c UNIVERSITY OF KIEL   (Germany)

^d DEPARTMENT OF PHARMACEUTICAL AND PHARMACOLOGICAL SCIENCES   (Belgium)

^e UNIVERSITY OF TÜBINGEN   (Germany)

^f Pediatric Neurology Clinic 2   (Romania)

^g Pediatric Neurology Clinic   (Romania)

^h WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

ⁱ Tagesklinik für Neuropädiatrie   (Germany)

^j UNIVERSITY OF TARTU   (Estonia)

^k TARTU UNIVERSITY HOSPITAL   (Estonia)

^l GATA HAYDARPASA TRAINING HOSPITAL   (Turkey)

^m BOGAZICI UNIVERSITY   (Turkey)

ⁿ HOSPITAL UNIVERSITARIO FUNDACIÓN JIMÉNEZ DÍAZ   (Spain)

^o UNIVERSITY OF BERN   (Switzerland)

^p INSTITUTE OF MOTHER AND CHILD   (Poland)

^q KBC Zagreb   (Croatia)

^r UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^s DANISH EPILEPSY CENTRE   (Denmark)

^t UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^u UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

^v UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^w Pediatric Neurology and Muscular Diseases Unit   (Italy)

^x Neuromuscular Disease Unit   (Italy)

^y UNIVERSITY OF FLORENCE   (Italy)

^z INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^aa CNRS   (France)

^ab SORBONNE UNIVERSITÉ   (France)

^ac ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^ad UNIVERSITY OF LUXEMBOURG   (Luxembourg)

^ae FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^af UNIVERSITY OF HELSINKI   (Finland)

^ag BROAD INSTITUTE OF MIT AND HARVARD   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BROMIDE; CHROMODOMAIN HELICASE DNA BINDING PROTEIN 2; CLOBAZAM; DNA BINDING PROTEIN; DNA FRAGMENT; ETHOSUXIMIDE; ETIRACETAM; GENOMIC DNA; LAMOTRIGINE; PHENOBARBITAL; PHENYTOIN; PREDNISOLONE; PYRIDOXINE; TOPIRAMATE; UNCLASSIFIED DRUG; VALPROIC ACID; VIGABATRIN;

ABSENCE; AGAR GEL ELECTROPHORESIS; ALTERNATIVE RNA SPLICING; AMPLICON; ANTICONVULSANT THERAPY; ARTICLE; ATAXIA; ATTENTION DEFICIT DISORDER; AUTISM; BRAIN DISEASE; CHROMATIN STRUCTURE; CHROMOSOME 15Q; CHROMOSOME DELETION; CLINICAL FEATURE; COPY NUMBER VARIATION; DYSARTHRIA; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; EPILEPTIC STATE; EXOME; EXON; EXON SKIPPING; FEVER SENSITIVE MYOCLONIC EPILEPTIC ENCEPHALOPATHY; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC TRANSCRIPTION; HAPLOINSUFFICIENCY; HUMAN; INTELLECTUAL IMPAIRMENT; INTRON; INTRON RETENTION; LOCOMOTION; LOSS OF FUNCTION MUTATION; MULTIPLEX POLYMERASE CHAIN REACTION; MYOCLONUS SEIZURE; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SEVERE MYOCLONIC EPILEPSY IN INFANCY; STOP CODON; TONIC CLONIC SEIZURE; ZEBRA FISH;

DANIO RERIO;

EID: 84890151248     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.09.017     Document Type: Article

References (34)

1. Cross, J.H., and Guerrini, R. (2013). The epileptic encephalopathies. Handb. Clin. Neurol. 111, 619-626.
2. Dravet, C. (2011). The core Dravet syndrome phenotype. Epilepsia 52(Suppl 2), 3-9.
3. Kearney, J.A.,Wiste, A.K., Stephani, U., Trudeau, M.M., Siegel, A., RamachandranNair, R., Elterman, R.D., Muhle, H., Reinsdorf, J., Shields, W.D., et al. (2006). Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. Pediatr. Neurol. 34, 116-120.
4. Depienne, C., Trouillard, O., Saint-Martin, C., Gourfinkel-An, I., Bouteiller, D., Carpentier, W., Keren, B., Abert, B., Gautier, A., Baulac, S., et al. (2009). Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J. Med. Genet. 46, 183-191.
5. Depienne, C., Trouillard, O., Bouteiller, D., Gourfinkel-An, I., Poirier, K., Rivier, F., Berquin, P., Nabbout, R., Chaigne, D., Steschenko, D., et al. (2011). Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum. Mutat. 32, E1959-E1975.
6. Vissers, L.E., de Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., de Vries, P., van Lier, B., Arts, P.,Wieskamp, N., del Rosario, M., et al. (2010). A de novo paradigm for mental retardation. Nat. Genet. 42, 1109-1112.
7. de Ligt, J., Veltman, J.A., and Vissers, L.E. (2013). Point mutations as a source of de novo genetic disease. Curr. Opin. Genet. Dev. 23, 257-263.
8. Li, H., and Durbin, R. (2010). Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 26, 589-595.
9. McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., and DePristo, M.A. (2010). The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297-1303.
10. Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., and Durbin, R.; 1000 Genome Project Data Processing Subgroup. (2009). The Sequence Alignment/Map format and SAMtools. Bioinformatics 25, 2078-2079.
11. Albers, C.A., Lunter, G., MacArthur, D.G., McVean, G., Ouwehand, W.H., and Durbin, R. (2011). Dindel: accurate indel calls from short-read data. Genome Res. 21, 961-973.
12. Reumers, J., De Rijk, P., Zhao, H., Liekens, A., Smeets, D., Cleary, J., Van Loo, P., Van Den Bossche, M., Catthoor, K., Sabbe, B., et al. (2012). Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing. Nat. Biotechnol. 30, 61-68.
13. Conrad, D.F., Keebler, J.E.M., DePristo, M.A., Lindsay, S.J., Zhang, Y., Casals, F., Idaghdour, Y., Hartl, C.L., Torroja, C., Garimella, K.V., et al.; 1000 Genomes Project. (2011). Variation in genome-wide mutation rates within and between human families. Nat. Genet. 43, 712-714.
14. Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., et al. (2012). Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 380, 1674-1682.
15. Neale, B.M., Kou, Y., Liu, L., Ma'ayan, A., Samocha, K.E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012). Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242-245.
16. Carvill, G.L., Heavin, S.B., Yendle, S.C., McMahon, J.M., O'Roak, B.J., Cook, J., Khan, A., Dorschner, M.O., Weaver, M., Calvert, S., et al. (2013). Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat. Genet. 45, 825-830.
17. Allen, A.S., Berkovic, S.F., Cossette, P., Delanty, N., Dlugos, D., Eichler, E.E., Epstein, M.P., Glauser, T., Goldstein, D.B., Han, Y., et al.; Epi4K Consortium; Epilepsy Phenome/Genome Project. (2013). De novo mutations in epileptic encephalopathies. Nature 501, 217-221.
18. Capelli, L.P., Krepischi, A.C., Gurgel-Giannetti, J., Mendes, M.F., Rodrigues, T., Varela, M.C., Koiffmann, C.P., and Rosenberg, C. (2012). Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. Eur. J. Med. Genet. 55, 132-134.
19. Dhamija, R., Patterson, M.C., and Wirrell, E.C. (2012). Epilepsy in children - when should we think neurometabolic disease? J. Child Neurol. 27, 663-671.
20. Veredice, C., Bianco, F., Contaldo, I., Orteschi, D., Stefanini, M.C., Battaglia, D., Lettori, D., Guzzetta, F., and Zollino, M. (2009). Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case. Epilepsia 50, 1810-1815.
21. Li, M.M., Nimmakayalu, M.A., Mercer, D., Andersson, H.C., and Emanuel, B.S. (2008). Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays. Am. J. Med. Genet. A. 146, 368-375.
22. Lund, C., Brodtkorb, E., Røsby, O., Rødningen, O.K., and Selmer, K.K. (2013). Copy number variants in adult patients with Lennox-Gastaut syndrome features. Epilepsy Res. 105, 110-117.
23. Suls, A., Claeys, K.G., Goossens, D., Harding, B., Van Luijk, R., Scheers, S., Deprez, L., Audenaert, D., Van Dyck, T., Beeckmans, S., et al. (2006). Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. Hum. Mutat. 27, 914-920.
24. Nasevicius, A., and Ekker, S.C. (2000). Effective targeted gene 'knockdown' in zebrafish. Nat. Genet. 26, 216-220.
25. Summerton, J., and Weller, D. (1997). Morpholino antisense oligomers: design, preparation, and properties. Antisense Nucleic Acid Drug Dev. 7, 187-195.
26. Afrikanova, T., Serruys, A.-S.K., Buenafe, O.E.M., Clinckers, R., Smolders, I., de Witte, P.A.M., Crawford, A.D., and Esguerra, C.V. (2013). Validation of the zebrafish pentylenetetrazol seizure model: locomotor versus electrographic responses to antiepileptic drugs. PLoS ONE 8, e54166.
27. Derchansky, M., Jahromi, S.S., Mamani, M., Shin, D.S., Sik, A., and Carlen, P.L. (2008). Transition to seizures in the isolated immature mouse hippocampus: a switch from dominant phasic inhibition to dominant phasic excitation. J. Physiol. 586, 477-494.
28. Kulkarni, S., Nagarajan, P., Wall, J., Donovan, D.J., Donell, R.L., Ligon, A.H., Venkatachalam, S., and Quade, B.J. (2008). Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis. Am. J. Med. Genet. A. 146A, 1117-1127.
29. Marfella, C.G., Henninger, N., LeBlanc, S.E., Krishnan, N., Garlick, D.S., Holzman, L.B., and Imbalzano, A.N. (2008). A mutation in the mouse Chd2 chromatin remodeling enzyme results in a complex renal phenotype. Kidney Blood Press. Res. 31, 421-432.
30. Marfella, C.G., Ohkawa, Y., Coles, A.H., Garlick, D.S., Jones, S.N., and Imbalzano, A.N. (2006). Mutation of the SNF2 family member Chd2 affects mouse development and survival. J. Cell. Physiol. 209, 162-171.
31. Nagarajan, P., Onami, T.M., Rajagopalan, S., Kania, S., Donnell, R., and Venkatachalam, S. (2009). Role of chromodomain helicase DNA-binding protein 2 in DNA damage response signaling and tumorigenesis. Oncogene 28, 1053-1062.
32. Vissers, L.E.L.M., van Ravenswaaij, C.M.A., Admiraal, R., Hurst, J.A., de Vries, B.B.A., Janssen, I.M., van der Vliet, W.A., Huys, E.H.L.P.G., de Jong, P.J., Hamel, B.C.J., et al. (2004). Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat. Genet. 36, 955-957.
33. O'Roak, B.J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B.P., Levy, R., Ko, A., Lee, C., Smith, J.D., et al. (2012). Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246-250.
34. O'Roak, B.J., Vives, L., Fu, W., Egertson, J.D., Stanaway, I.B., Phelps, I.G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., et al. (2012). Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 338, 1619-1622.