Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

American Journal of Human Genetics

Volumn 86, Issue 5, 2010, Pages 707-718

  Heinzen, Erin L ^a   Radtke, Rodney A ^a   Urban, Thomas J ^a   Cavalleri, Gianpiero L ^c   Depondt, Chantal ^f   Need, Anna C ^a   Walley, Nicole M ^a   Nicoletti, Paola ^a   Ge, Dongliang ^a   Catarino, Claudia B ^g,h   Duncan, John S ^g,h   Kasperavičiute, Dalia ^g   Tate, Sarah K ^g   Caboclo, Luis O ^g   Sander, Josemir W ^g,h,i   Clayton, Lisa ^g   Linney, Kristen N ^a   Shianna, Kevin V ^a   Gumbs, Curtis E ^a   Smith, Jason ^a   Cronin, Kenneth D ^a   Maia, Jessica M ^a   Doherty, Colin P ^d   Pandolfo, Massimo ^f   Leppert, David ^j,k   Middleton, Lefkos T ^l   Gibson, Rachel A ^j   Johnson, Michael R ^j,m   Matthews, Paul M ^j,m   Hosford, David ^a   Kälviäinen, Reetta ⁿ   Eriksson, Kai ^o   Kantanen, Anne Mari ⁿ   Dorn, Thomas ^p   Hansen, Jörg ^p   Krämer, Günter ^p   Steinhoff, Bernhard J ^q   Wieser, Heinz Gregor ^r   Zumsteg, Dominik ^r   Ortega, Marcos ^r   Wood, Nicholas W ^g   Huxley Jones, Julie ^j   Mikati, Mohamad ^b   Gallentine, William B ^b   Husain, Aatif M ^a   Buckley, Patrick G ^e   Stallings, Ray L ^e   Podgoreanu, Mihai V ^b   Delanty, Norman ^c   Sisodiya, Sanjay M ^g,h   Goldstein, David B ^a   more..

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c BEAUMONT HOSPITAL   (Ireland)

^d ST JAMES S HOSPITAL   (Ireland)

^e ROYAL COLLEGE OF SURGEONS IN IRELAND   (Ireland)

^f ERASME HOSPITAL   (Belgium)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h EPILEPSY SOCIETY   (United Kingdom)

ⁱ STICHTING EPILEPSIE INSTELLINGEN NEDERLAND SEIN   (Netherlands)

^j GLAXOSMITHKLINE   (United Kingdom)

^k UNIVERSITY HOSPITAL BASEL   (Switzerland)

^l IMPERIAL COLLEGE LONDON   (United Kingdom)

^m HAMMERSMITH HOSPITAL   (United Kingdom)

ⁿ KUOPIO UNIVERSITY HOSPITAL   (Finland)

^o TAMPERE UNIVERSITY HOSPITAL   (Finland)

^p SWISS EPILEPSY CENTER   (Switzerland)

^q Epilepsy Centre Kork   (Germany)

^r UNIVERSITY HOSPITAL ZURICH   (Switzerland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 16P; CONTROLLED STUDY; EPILEPSY; EXON; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE MUTATION; GENE NUMBER; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INHERITANCE; LYMPHOCYTE; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; RISK FACTOR;

CHROMOSOMES, HUMAN, PAIR 16; DISEASE SUSCEPTIBILITY; EPILEPSY; HUMANS; MUTATION; NUCLEIC ACID HYBRIDIZATION; SEQUENCE DELETION; SYNDROME;

EID: 77952096810     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.03.018     Document Type: Article

References (25)

1. Mefford H.C., Sharp A.J., Baker C., Itsara A., Jiang Z., Buysse K., Huang S., Maloney V.K., Crolla J.A., Baralle D., et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med. 359 (2008) 1685-1699
2. Need A.C., Ge D., Weale M.E., Maia J., Feng S., Heinzen E.L., Shianna K.V., Yoon W., Kasperaviciūte D., Gennarelli M., et al. A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet. 5 (2009) e1000373
3. Stefansson H., Rujescu D., Cichon S., Pietiläinen O.P., Ingason A., Steinberg S., Fossdal R., Sigurdsson E., Sigmundsson T., Buizer-Voskamp J.E., et al., GROUP. Large recurrent microdeletions associated with schizophrenia. Nature 455 (2008) 232-236
4. Walsh T., McClellan J.M., McCarthy S.E., Addington A.M., Pierce S.B., Cooper G.M., Nord A.S., Kusenda M., Malhotra D., Bhandari A., et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320 (2008) 539-543
5. Weiss L.A., Shen Y., Korn J.M., Arking D.E., Miller D.T., Fossdal R., Saemundsen E., Stefansson H., Ferreira M.A., Green T., et al., Autism Consortium. Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med. 358 (2008) 667-675
6. Hannes F.D., Sharp A.J., Mefford H.C., de Ravel T., Ruivenkamp C.A., Breuning M.H., Fryns J.P., Devriendt K., Van Buggenhout G., Vogels A., et al. Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet. 46 (2008) 223-232
7. Helbig I., Mefford H.C., Sharp A.J., Guipponi M., Fichera M., Franke A., Muhle H., de Kovel C., Baker C., von Spiczak S., et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet. 41 (2009) 160-162
8. de Kovel C.G., Trucks H., Helbig I., Mefford H.C., Baker C., Leu C., Kluck C., Muhle H., von Spiczak S., Ostertag P., et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133 (2009) 23-32
9. Li H., and Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25 (2009) 1754-1760
10. Li H., Handsaker B., Wysoker A., Fennell T., Ruan J., Homer N., Marth G., Abecasis G., Durbin R., and 1000 Genome Project Data Processing Subgroup. The Sequence Alignment/Map format and SAMtools. Bioinformatics 25 (2009) 2078-2079
11. Dibbens L.M., Mullen S., Helbig I., Mefford H.C., Bayly M.A., Bellows S., Leu C., Trucks H., Obermeier T., Wittig M., et al. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet. 18 (2009) 3626-3631
12. van Bon B.W., Mefford H.C., Menten B., Koolen D.A., Sharp A.J., Nillesen W.M., Innis J.W., de Ravel T.J., Mercer C.L., Fichera M., et al. Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet. 46 (2009) 511-523
13. Pawlisz A.S., Mutch C., Wynshaw-Boris A., Chenn A., Walsh C.A., and Feng Y. Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination. Hum. Mol. Genet. 17 (2008) 2441-2455
14. LaFrance Jr. W.C., Kanner A.M., and Hermann B. Psychiatric comorbidities in epilepsy. Int. Rev. Neurobiol. 83 (2008) 347-383
15. Zuberi S.M., Eunson L.H., Spauschus A., De Silva R., Tolmie J., Wood N.W., McWilliam R.C., Stephenson J.B., Stephenson J.P., Kullmann D.M., and Hanna M.G. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain 122 (1999) 817-825
16. Cossette P., Liu L., Brisebois K., Dong H., Lortie A., Vanasse M., Saint-Hilaire J.M., Carmant L., Verner A., Lu W.Y., et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat. Genet. 31 (2002) 184-189
17. Audenaert D., Schwartz E., Claeys K.G., Claes L., Deprez L., Suls A., Van Dyck T., Lagae L., Van Broeckhoven C., Macdonald R.L., and De Jonghe P. A novel GABRG2 mutation associated with febrile seizures. Neurology 67 (2006) 687-690
18. Harkin L.A., Bowser D.N., Dibbens L.M., Singh R., Phillips F., Wallace R.H., Richards M.C., Williams D.A., Mulley J.C., Berkovic S.F., et al. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am. J. Hum. Genet. 70 (2002) 530-536
19. Kananura C., Haug K., Sander T., Runge U., Gu W., Hallmann K., Rebstock J., Heils A., and Steinlein O.K. A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch. Neurol. 59 (2002) 1137-1141
20. Wallace R.H., Marini C., Petrou S., Harkin L.A., Bowser D.N., Panchal R.G., Williams D.A., Sutherland G.R., Mulley J.C., Scheffer I.E., and Berkovic S.F. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat. Genet. 28 (2001) 49-52
21. Diani E., Di Bonaventura C., Mecarelli O., Gambardella A., Elia M., Bovo G., Bisulli F., Pinardi F., Binelli S., Egeo G., et al. Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins. Epilepsy Res. 80 (2008) 1-8
22. Kalachikov S., Evgrafov O., Ross B., Winawer M., Barker-Cummings C., Martinelli Boneschi F., Choi C., Morozov P., Das K., Teplitskaya E., et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat. Genet. 30 (2002) 335-341
23. Morante-Redolat J.M., Gorostidi-Pagola A., Piquer-Sirerol S., Sáenz A., Poza J.J., Galán J., Gesk S., Sarafidou T., Mautner V.F., Binelli S., et al. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum. Mol. Genet. 11 (2002) 1119-1128
24. Purcell S., Neale B., Todd-Brown K., Thomas L., Ferreira M.A., Bender D., Maller J., Sklar P., de Bakker P.I., Daly M.J., and Sham P.C. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81 (2007) 559-575
25. Xu B., Woodroffe A., Rodriguez-Murillo L., Roos J.L., van Rensburg E.J., Abecasis G.R., Gogos J.A., and Karayiorgou M. Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans. Proc. Natl. Acad. Sci. USA 106 (2009) 16746-16751