Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy

American Journal of Medical Genetics, Part A

Volumn 170, Issue 12, 2016, Pages 3265-3270

  Smigiel, Robert ^a   Kostrzewa, Grazyna ^b   Kosinska, Joanna ^b   Pollak, Agnieszka ^b   Stawinski, Piotr ^c   Szmida, Elzbieta ^a   Bloch, Michal ^a   Szymanska, Krystyna ^b,d   Karpinski, Pawel ^a   Sasiadek, Maria M ^a   Ploski, Rafal ^b  

^a WROCLAW MEDICAL UNIVERSITY   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

^c INSTITUTE OF PHYSIOLOGY AND PATHOLOGY OF HEARING   (Poland)

^d MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

Author keywords

epilepsy; epileptic encephalopathy; GRIN2B; severe intellectual disability; speech delay; splicing mutation

Indexed keywords

DNA; LAMOTRIGINE; LEVETIRACETAM; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2B; VALPROIC ACID; BIOLOGICAL MARKER; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; NR2B NMDA RECEPTOR; RNA SPLICE SITE;

ARTICLE; CAPILLARY ELECTROPHORESIS; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; DRUG SUBSTITUTION; DRUG WITHDRAWAL; EEG ABNORMALITY; EPILEPTIC ENCEPHALOPATHY; GAIN OF FUNCTION MUTATION; GENETIC ASSOCIATION; GENETIC PROCEDURES; GENETIC VARIABILITY; GENOME SIZE; GRIN2B GENE; HUMAN; INTELLECTUAL IMPAIRMENT; INTRON; MALE; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SANGER SEQUENCING; SEIZURE; SHORT TANDEM REPEAT; SPLICING DEFECT; WHOLE EXOME SEQUENCING; CHROMOSOME 4; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY; EXOME; GENETIC ASSOCIATION STUDY; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION; RNA SPLICE SITE;

BIOMARKERS; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY; EXOME; GENETIC ASSOCIATION STUDIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEUROIMAGING; PHENOTYPE; PHYSICAL EXAMINATION; RECEPTORS, N-METHYL-D-ASPARTATE; RNA SPLICE SITES;

EID: 84995776296     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37887     Document Type: Article

References (21)

1. Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshe SL, Nordli D, Plouin P, Scheffer IE. 2010. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on lassification and terminology, 2005–2009. Epilepsia 51:676–685.
2. Brunak S, Engelbrecht J, Knudsen S. 1991. Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 220:49–65.
3. Cull-Candy S, Brickley S, Farrant M. 2001. NMDA receptor subunits: Diversity, development and disease. Curr Opin Neurobiol 11:327–335.
4. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. 2012. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367:1921–1929.
5. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ. 2011. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491–498.
6. Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K. 2010. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable eurodevelopmental phenotypes. Nat Genet 42:1021–1026.
7. Epi4 K Consortium, Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR. 2013. Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature 501:217–221.
8. EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4 K Consortium, Appenzeller S, Balling R, Barisic N, Baulac S, Caglayan H, Craiu D, De Jonghe P, Depienne C, Dimova P, Djémié T, Gormley P, Guerrini R, Helbig I, Hjalgrim H, Hoffman-Zacharska D, Jähn J, Klein KM, Koeleman B, Komarek V, Krause R, Kuhlenbäumer G, Leguern E, Lehesjoki AE, Lemke JR, Lerche H, Linnankivi T, Marini C, May P, Møller RS, Muhle H, Pal D, Palotie A, Pendziwiat M, Robbiano A, Roelens F, Rosenow F, Selmer K, Serratosa JM, Sisodiya S, Stephani U, Sterbova K, Striano P, Suls A, Talvik T, von Spiczak S, Weber Y, Weckhuysen S, Zara F, Abou-Khalil B, Alldredge BK, Andermann E, Andermann F, Amron D, Bautista JF, Berkovic SF, Bluvstein J, Boro A, Cascino G, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haas K, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent J, Park K, Poduri A, Sadleir L, Scheffer IE, Shellhaas RA, Sherr E, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Thio LL, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Johnson MR, Kuzniecky R, Lowenstein DH, Marson AG, Mefford HC, Nieh SE, O'Brien TJ, Ottman R, Petrou S, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr E. 2014. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet 95:360–370.
9. Hamdan FF, Srour M, Capo-Chichi JM, Daoud H, Nassif C, Patry L, Massicotte C, Ambalavanan A, Spiegelman D, Diallo O, Henrion E, Dionne-Laporte A, Fougerat A, Pshezhetsky AV, Venkateswaran S, Rouleau GA, Michaud JL. 2014. De novo mutations in moderate or severe intellectual disability. PLoS Genet 10:e1004772.
10. Kenny EM, Cormican P, Furlong S, Heron E, Kenny G, Fahey C, Kelleher E, Ennis S, Tropea D, Anney R, Corvin AP, Donohoe G, Gallagher L, Gill M, Morris DW. 2014. Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders. Mol Psychiatry 19:872–879.
11. Lau CG, Zukin RS. 2007. NMDA receptor trafficking in synaptic plasticity and neuropsychiatric disorders. Nat Rev Neurosci 8:413–426.
12. Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S. 2013. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet 45:1067–1072.
13. Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hörtnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, De Jonghe P, Biskup S, Weckhuysen S. 2014. GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol 75:147–154.
14. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. 2010. The genome analysis toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20:1297–1303.
15. Oliver KL, Lukic V, Thorne NP, Berkovic SF, Scheffer IE, Bahlo M. 2014. Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes. PLoS ONE 9:e102079.
16. Pagani F, Baralle FE. 2004. Genomic variants in exons and introns: Identifying the splicing spoilers. Nat Rev Genet 5:389–396.
17. Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC. 2014. GRIN2A mutation and early-onset epileptic encephalopathy: Personalized therapy with memantine. Ann Clin Transl Neurol 1:190–198.
18. Ploski R, Pollak A, Müller S, Franaszczyk M, Michalak E, Kosinska J, Stawinski P, Spiewak M, Seggewiss H, Bilinska ZT. 2014. Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy? Circ Res 114:2–5.
19. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. 2015. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–423.
20. Robinson JT, Thorvaldsdóttir H, Winckler W, Guttman M, Lander ES, Getz G, Mesirov JP. 2011. Integrative genomics viewer. Nat Biotechnol 29:24–26.
21. Wang K, Li M, Hakonarson H. 2010. ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38:e164.