Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy

American Journal of Medical Genetics, Part A

Volumn 161, Issue 7, 2013, Pages 1722-1725

  Bassuk, Alexander G ^a   Geraghty, Eileen ^b   Wu, Shu ^a   Mullen, Saul A ^c   Berkovic, Samuel F ^c   Scheffer, Ingrid E ^c   Mefford, Heather C ^b  

^a UNIVERSITY OF IOWA   (United States)

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

^c UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

CNV; Deletion; Epilepsy; Intellectual disability

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 16P; CHROMOSOME 19P; CHROMOSOME DELETION; CHROMOSOME DELETION 16P11; CHROMOSOME DELETION 19P13; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; ELECTROENCEPHALOGRAPHY; EXOME; FAMILY HISTORY; FEMALE; GENE; GENE FUNCTION; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; MALE; MEDICAL HISTORY; NUCLEOTIDE SEQUENCE; OBESITY; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; ZNF44 GENE;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 19; DNA COPY NUMBER VARIATIONS; EPILEPSY, GENERALIZED; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; OBESITY; POLYMORPHISM, SINGLE NUCLEOTIDE; SIBLINGS; TRANSCRIPTION FACTORS;

EID: 84879461493     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35946     Document Type: Article

References (19)

1. Auvin S, Holder-Espinasse M, Lamblin MD, Andrieux J. 2009. Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms. Epilepsia 50:2501-2503.
2. Bedoyan JK, Kumar RA, Sudi J, Silverstein F, Ackley T, Iyer RK, Christian SL, Martin DM. 2010. Duplication 16p11.2 in a child with infantile seizure disorder. Am J Med Genet Part A 152A:1567-1574.
3. Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, Anderlid BM, Lundin J, Lapunzina P, Perez Jurado LA, Delle Chiaie B, Loeys B, Menten B, Oostra A, Verhelst H, Amor DJ, Bruno DL, van Essen AJ, Hordijk R, Sikkema-Raddatz B, Verbruggen KT, Jongmans MC, Pfundt R, Reeser HM, Breuning MH, Ruivenkamp CA. 2009. Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet 52:77-87.
4. Blanquet PR. 2000. Casein kinase 2 as a potentially important enzyme in the nervous system. Progress Neurobiol 60:211-246.
5. de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenite DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Moller RS, Hjalgrim H, De Jonghe P, Suls A, Ruckert IM, Wichmann HE, Franke A, Schreiber S, Nurnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T. 2010. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133:23-32.
6. Girirajan S, Eichler EE. 2010. Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 19:R176-R187.
7. Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gecz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. 2010. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 42:203-209.
8. Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE. 2012. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med 367:1321-1331.
9. Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB, Christian SL. 2008. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 17:628-638.
10. Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD, Sanderson CM. 2004. Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region. Genomics 83:153-167.
11. Mefford HC, Eichler EE. 2009. Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev 19:196-204.
12. Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE. 2010. Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 6:e1000962.
13. Mefford HC, Yendle SC, Hsu C, Cook J, Geraghty E, McMahon JM, Eeg-Olofsson O, Sadleir LG, Gill D, Ben-Zeev B, Lerman-Sagie T, Mackay M, Freeman JL, Andermann E, Pelakanos JT, Andrews I, Wallace G, Eichler EE, Berkovic SF, Scheffer IE. 2011. Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol 70:974-985.
14. Mefford HC, Batshaw ML, Hoffman EP. 2012. Genomics, intellectual disability, and autism. N Engl J Med 366:733-743.
15. Rosenfeld JA, Coppinger J, Bejjani BA, Girirajan S, Eichler EE, Shaffer LG, Ballif BC. 2009. Speech delays and behavioural problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J Neurodev Disord 2:26-38.
16. Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. 2010. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 47:332-341.
17. Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chevre JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel JL, Le Caignec C, David A, Isidor B, Cordier MP, Dupuis-Girod S, Labalme A, Sanlaville D, Beri-Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E, Keogh J, Ellis RJ, Macdermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, Mathieu-Dramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen AL, McCarthy MI, Peltonen L, Carlsson L, Jacobson P, Sjostrom L, Huang N, Hurles ME, O'Rahilly S, Farooqi IS, Mannik K, Jarvelin MR, Pattou F, Meyre D, Walley AJ, Coin LJ, Blakemore AI, Froguel P, Beckmann JS. 2010. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 463:671-675.
18. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ. 2008. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358:667-675.
19. Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Mace A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Mannik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S. 2012. A 600kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet 49:660-668.