Copy number variation plays an important role in clinical epilepsy

Annals of Neurology

Volumn 75, Issue 6, 2014, Pages 943-958

  Olson, Heather ^a   Shen, Yiping ^a,b,c   Avallone, Jennifer ^a   Sheidley, Beth R ^a   Pinsky, Rebecca ^a   Bergin, Ann M ^a   Berry, Gerard T ^a   Duffy, Frank H ^a   Eksioglu, Yaman ^a   Harris, David J ^a   Hisama, Fuki M ^a,d   Ho, Eugenia ^a,e   Irons, Mira ^a   Jacobsen, Christina M ^a   James, Philip ^a   Kothare, Sanjeev ^a,f   Khwaja, Omar ^a   Lipton, Jonathan ^a   Loddenkemper, Tobias ^a   Markowitz, Jennifer ^a   Maski, Kiran ^a   Megerian, J Thomas ^a   Neilan, Edward ^a   Raffalli, Peter C ^a   Robbins, Michael ^a   Roberts, Amy ^a   Roe, Eugene ^a   Rollins, Caitlin ^a   Sahin, Mustafa ^a   Sarco, Dean ^a   Schonwald, Alison ^g   Smith, Sharon E ^a   Soul, Janet ^a   Stoler, Joan M ^a   Takeoka, Masanori ^a   Tan, Wen Han ^a   Torres, Alcy R ^a,g   Tsai, Peter ^a   Urion, David K ^a   Weissman, Laura ^a   Wolff, Robert ^a   Wu, Bai Lin ^a,b,c   Miller, David T ^a,c   Poduri, Annapurna ^a   more..

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c Claritas Genomics   (United States)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^f NEW YORK UNIVERSITY   (United States)

^g BOSTON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR ALPHA1; 4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; BUNGAROTOXIN RECEPTOR; COLLAGEN TYPE 1; METHYL CPG BINDING PROTEIN 2; MITOGEN ACTIVATED PROTEIN KINASE 3; PERIPHERAL MYELIN PROTEIN 22; POTASSIUM CHANNEL KCNQ2; TRANSCRIPTION FACTOR SOX6; WNT7B PROTEIN;

ARTICLE; BENIGN CHILDHOOD EPILEPSY; CHROMOSOME 1; CHROMOSOME 10; CHROMOSOME 11; CHROMOSOME 12; CHROMOSOME 13; CHROMOSOME 14; CHROMOSOME 15; CHROMOSOME 15Q; CHROMOSOME 17; CHROMOSOME 18; CHROMOSOME 19; CHROMOSOME 1Q; CHROMOSOME 2; CHROMOSOME 20; CHROMOSOME 3; CHROMOSOME 4; CHROMOSOME 5; CHROMOSOME 6; CHROMOSOME 7; CHROMOSOME 8; CHROMOSOME 9; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; EPILEPSY; HAPPY PUPPET SYNDROME; HUMAN; ICD-9; MAJOR CLINICAL STUDY; MEDICAL RECORD REVIEW; MICROARRAY ANALYSIS; MOWAT WILSON SYNDROME; PHENOTYPE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SEVERE MYOCLONIC EPILEPSY IN INFANCY; TRISOMY; WOLF HIRSCHHORN SYNDROME; X CHROMOSOME;

CHROMOSOME DISORDERS; DNA COPY NUMBER VARIATIONS; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; GENE EXPRESSION PROFILING; HUMANS; INTERNATIONAL CLASSIFICATION OF DISEASES; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; RETROSPECTIVE STUDIES;

EID: 84903701403     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24178     Document Type: Article

References (56)

1. de Kovel CG, Trucks H, Helbig I, et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 2010; 133 (pt 1): 23-32.
2. Heinzen EL, Radtke RA, Urban TJ, et al. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet 2010; 86: 707-718.
3. Mefford HC, Muhle H, Ostertag P, et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 2010; 6: e1000962.
4. Mullen SA, Carvill GL, Bellows S, et al. Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Neurology 2013; 81: 1507-1514.
5. Heron SE, Cox K, Grinton BE, et al. Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. J Med Genet 2007; 44: 791-796.
6. Kurahashi H, Wang JW, Ishii A, et al. Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures. Neurology 2009; 73: 1214-1217.
7. Liang JS, Shimojima K, Takayama R, et al. CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia 2011; 52: 1835-1842.
8. Mulley JC, Nelson P, Guerrero S, et al. A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. Neurology 2006; 67: 1094-1095.
9. Striano P, Paravidino R, Sicca F, et al. West syndrome associated with 14q12 duplications harboring FOXG1. Neurology 2011; 76: 1600-1602.
10. Wang JW, Kurahashi H, Ishii A, et al. Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. Epilepsia 2008; 49: 1528-1534.
11. Olson H, Poduri A,. CDKL5 mutations in early onset epilepsy: case report and review of the literature. J Pediatr Epilepsy 2012; 1: 151-159.
12. Itsara A, Cooper GM, Baker C, et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 2009; 84: 148-161.
13. Striano P, Coppola A, Paravidino R, et al. Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. Arch Neurol 2012; 69: 322-330.
14. Bartnik M, Szczepanik E, Derwinska K, et al. Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. Am J Med Genet B Neuropsychiatr Genet 2012; 159B: 760-771.
15. Potocki L, Bi W, Treadwell-Deering D, et al. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 2007; 80: 633-649.
16. Poduri A, Chopra SS, Neilan EG, et al. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia 2012; 53: e146-e150.
17. Kurian MA, Meyer E, Vassallo G, et al. Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy. Brain 2010; 133: 2964-2970.
18. Escayg A, De Waard M, Lee DD, et al. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 2000; 66: 1531-1539.
19. Masurel-Paulet A, Andrieux J, Callier P, et al. Delineation of 15q13.3 microdeletions. Clin Genet 2010; 78: 149-161.
20. Dibbens LM, Mullen S, Helbig I, et al. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet 2009; 18: 3626-3631.
21. Helbig I, Mefford HC, Sharp AJ, et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 2009; 41: 160-162.
22. Miller DT, Shen Y, Weiss LA, et al. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet 2009; 46: 242-248.
23. Muhle H, Mefford HC, Obermeier T, et al. Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome. Epilepsia 2011; 52: e194-e198.
24. Cossette P, Liu L, Brisebois K, et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 2002; 31: 184-189.
25. Macdonald RL, Kang JQ, Gallagher MJ,. GABA-A receptor subunit mutations and genetic epilepsies. In:, Noebels JL, Avoli M, Rogawski MA, et al, eds. Jasper's basic mechanisms of the epilepsies [Internet]. 4th ed. Bethesda (MD): National Center for Biotechnology Information (US); 2012. Available from: http://www-ncbi-nlm-nih-gov.ezp-prod1.hul.harvard.edu/books/NBK98205/.
26. Weiss LA, Shen Y, Korn JM, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008; 358: 667-675.
27. Becker F, Schubert J, Striano P, et al. PRRT2-related disorders: further PKD and ICCA cases and review of the literature. J Neurol 2013; 260: 1234-1244.
28. Duong L, Klitten LL, Moller RS, et al. Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders. Am J Med Genet B Neuropsychiatr Genet 2012; 159B: 354-358.
29. Gregor A, Albrecht B, Bader I, et al. Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet 2011; 12: 106.
30. Harrison V, Connell L, Hayesmoore J, et al. Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters. Am J Med Genet A 2011; 155A: 2826-2831.
31. Moller RS, Weber YG, Klitten LL, et al. Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia 2013; 54: 256-264.
32. Schaaf CP, Boone PM, Sampath S, et al. Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Eur J Hum Genet 2012; 20: 1240-1247.
33. Dabell MP, Rosenfeld JA, Bader P, et al. Investigation of NRXN1 deletions: clinical and molecular characterization. Am J Med Genet A 2013; 161A: 717-731.
34. Ching MS, Shen Y, Tan WH, et al. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet 2010; 153B: 937-947.
35. Shinawi M, Liu P, Kang SH, et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 2010; 47: 332-341.
36. Basel-Vanagaite L, Goldberg-Stern H, Mimouni-Bloch A, et al. An emerging 1q21.1 deletion-associated neurodevelopmental phenotype. J Child Neurol 2011; 26: 113-116.
37. Brunetti-Pierri N, Berg JS, Scaglia F, et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 2008; 40: 1466-1471.
38. Hannes FD, Sharp AJ, Mefford HC, 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 2009; 46: 223-232.
39. Ballabio A, Carrozzo R, Gil A, et al. Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq. Ann Hum Genet 1989; 53: 9-14.
40. Shinawi M, Patel A, Panichkul P, et al. The Xp contiguous deletion syndrome and autism. Am J Med Genet A 2009; 149A: 1138-1148.
41. Faletra F, D'Adamo AP, Santa Rocca M, et al. Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature. Am J Med Genet A 2012; 158A: 461-464.
42. Li F, Shen Y, Kohler U, et al. Interstitial microduplication of Xp22.31: causative of intellectual disability or benign copy number variant? Eur J Med Genet 2010; 53: 93-99.
43. Melichar VO, Guth S, Hellebrand H, et al. A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: limit of viability of Xp deletions in males. Am J Med Genet A 2007; 143: 135-141.
44. Meindl A, Hosenfeld D, Bruckl W, et al. Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. J Med Genet 1993; 30: 838-842.
45. Doherty MJ, Glass IA, Bennett CL, et al. An Xp;Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits. Epilepsia 2003; 44: 1529-1535.
46. Gohlke BC, Haug K, Fukami M, et al. Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy. J Med Genet 2000; 37: 600-602.
47. Puusepp H, Zordania R, Paal M, et al. Girl with partial Turner syndrome and absence epilepsy. Pediatr Neurol 2008; 38: 289-292.
48. Spranger S, Schiller S, Jauch A, et al. Leri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3. Am J Med Genet 1999; 83: 367-371.
49. Tobias ES, Bryce G, Farmer G, et al. Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus. J Med Genet 2001; 38: 466-470.
50. van Steensel MA, Vreeburg M, Engelen J, et al. Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation. Am J Med Genet A 2008; 146A: 2944-2949.
51. Milunsky J, Huang XL, Wyandt HE, Milunsky A,. Schizophrenia susceptibility gene locus at Xp22.3. Clin Genet 1999; 55: 455-460.
52. Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; 86: 749-764.
53. Shen Y, Dies KA, Holm IA, et al. Clinical genetic testing for patients ith autism spectrum disorders. Pediatrics 2010; 125: e727-e735.
54. Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012; 367: 2175-2184.
55. Battaglia A, Doccini V, Bernardini L, et al. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. Eur J Paediatr Neurol 2013; 17: 589-599.
56. Mefford HC, Yendle SC, Hsu C, et al. Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol 2011; 70: 974-985.