Molecular characterization of a cohort of 73 patients with infantile spasms syndrome

European Journal of Medical Genetics

Volumn 58, Issue 2, 2015, Pages 51-58

  Boutry Kryza, Nadia ^a,b   Labalme, Audrey ^a   Ville, Dorothee ^a   de Bellescize, Julitta ^a   Touraine, Renaud ^c   Prieur, Fabienne ^c   Dimassi, Sarra ^a,b,d   Poulat, Anne Lise ^a   Till, Marianne ^a   Rossi, Massimiliano ^a,b   Bourel Ponchel, Emilie ^e   Delignières, Aline ^e   Le Moing, Anne Gaelle ^e   Rivier, Clotilde ^f   des Portes, Vincent ^a,d,g   Edery, Patrick ^a,b,d   Calender, Alain ^a,d,h   Sanlaville, Damien ^a,b,d   Lesca, Gaetan ^a,b,d  

^a HOSPICES CIVILS DE LYON   (France)

^b LYON NEUROSCIENCE RESEARCH CENTER   (France)

^c UNIVERSITÉ JEAN MONNET   (France)

^d UNIVERSITÉ LYON 1   (France)

^e AMIENS UNIVERSITY HOSPITAL   (France)

^f Nord Ouest Hospital   (France)

^g CNRS   (France)

^h CENTRE DE RECHERCHE EN CANCÉROLOGIE DE LYON   (France)

Author keywords

CDKL5; Infantile spasms syndrome; MEF2C; SCN2A; STXBP1; West syndrome

Indexed keywords

CYCLIN DEPENDENT KINASE 5; MYOCYTE ENHANCER FACTOR 2; MYOCYTE ENHANCER FACTOR 2C; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2A; POTASSIUM CHANNEL KCNQ2; SODIUM CHANNEL NAV1.2; SYNTAXIN; SYNTAXIN BINDING PROTEIN1; UBIQUITIN PROTEIN LIGASE NEDD4; UNCLASSIFIED DRUG; CALMODULIN; CALN1 PROTEIN, HUMAN; CARRIER PROTEIN; CDKL5 PROTEIN, HUMAN; EHMT1 PROTEIN, HUMAN; ESCRT PROTEIN; HISTONE LYSINE METHYLTRANSFERASE; KCNQ2 PROTEIN, HUMAN; MAGI2 PROTEIN, HUMAN; MEF2C PROTEIN, HUMAN; MUNC18 PROTEIN; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; N-METHYL D-ASPARTATE RECEPTOR SUBTYPE 2A; NEDD4 UBIQUITIN PROTEIN LIGASES; PROTEIN SERINE THREONINE KINASE; SCN2A PROTEIN, HUMAN; STXBP1 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ARTICLE; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENE DELETION; GENE DUPLICATION; GENETIC SCREENING; HUMAN; HUMAN CELL; INFANTILE SPASM; MAJOR CLINICAL STUDY; MALE; POINT MUTATION; PRESCHOOL CHILD; RISK FACTOR; SCHOOL CHILD; GENETICS; MUTATION; NEWBORN; SYNDROME;

CALMODULIN; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; ENDOSOMAL SORTING COMPLEXES REQUIRED FOR TRANSPORT; FEMALE; HISTONE-LYSINE N-METHYLTRANSFERASE; HUMANS; INFANT, NEWBORN; KCNQ2 POTASSIUM CHANNEL; MALE; MEF2 TRANSCRIPTION FACTORS; MUNC18 PROTEINS; MUTATION; NAV1.2 VOLTAGE-GATED SODIUM CHANNEL; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, N-METHYL-D-ASPARTATE; SPASMS, INFANTILE; SYNDROME; UBIQUITIN-PROTEIN LIGASES;

EID: 84923289875     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.11.007     Document Type: Article

References (53)

1. Barcia G., Chemaly N., Gobin S., et al. Early epileptic encephalopathies associated with STXBP1 mutations: could we better delineate the phenotype?. Eur. J. Med. Genet. 2014, 57(1):15-20.
2. Berkovic S.F., Dibbens L.M., Oshlack A., et al. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am. J. Hum. Genet. 2008, 82(3):673-684.
3. Biervert C., Schroeder B.C., Kubisch C., et al. Apotassium channel mutation in neonatal human epilepsy. Science 1998, 279(5349):403-406.
4. Boutry-Kryza N., Ville D., Labalme A., et al. Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl. Am. J. Med. Genet. A 2014, 164A(8):2025-2058.
5. Camera D., Boase N.A., Kumar S., Pow D.V., Poronnik P. Subtle gait abnormalities in Nedd4 heterozygous mice. Behav. Brain Res. 2014, 260:15-24.
6. Cardoso C., Boys A., Parrini E., et al. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology 2009, 72(9):784-792.
7. Carvill G.L., Heavin S.B., Yendle S.C., et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat. Genet. 2013, 45(7):825-830.
8. Carvill G.L., Regan B.M., Yendle S.C., et al. GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat. Genet. 2013, 45(9):1073-1076.
9. Charlier C., Singh N.A., Ryan S.G., et al. Apore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat. Genet. 1998, 18(1):53-55.
10. de Ligt J., Willemsen M.H., van Bon B.W., et al. Diagnostic exome sequencing in persons with severe intellectual disability. N.Engl. J. Med. 2012, 367(20):1921-1929.
11. Dibbens L.M., Ekberg J., Taylor I., et al. NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity. Genes. Brain Behav. 2007, 6(8):750-755.
12. Endele S., Rosenberger G., Geider K., et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat. Genet. 2010, 42(11):1021-1026.
13. Engels H., Wohlleber E., Zink A., et al. Anovel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. Eur. J. Hum. Genet. 2009, 17(12):1592-1599.
14. Allen A.S., Berkovic S.F., Cossette P. De novo mutations in epileptic encephalopathies. Nature 2013, 501(7466):217-221. Epi4K Consortium; Epilepsy Phenome/Genome Project.
15. Escayg A., De Waard M., Lee D.D., 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(5):1531-1539.
16. Gautam V., Trinidad J.C., Rimerman R.A., Costa B.M., Burlingame A.L., Monaghan D.T. Nedd4 is a specific E3 ubiquitin ligase for the NMDA receptor subunit GluN2D. Neuropharmacology 2013, 74:96-107.
17. Girirajan S., Rosenfeld J.A., Cooper G.M., et al. Arecurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat. Genet. 2010, 42(3):203-209.
18. Goeggel, Simonetti B., Rieubland C., et al. Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy. Epilepsia 2012, 53(12):2128-2134.
19. Heron S.E., Crossland K.M., Andermann E., et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 2002, 360(9336):851-852.
20. Hitomi Y., Heinzen E.L., Donatello S., et al. Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy. Ann. Neurol. 2013, 74(3):496-501.
21. Kato M., Das S., Petras K., Sawaishi Y., Dobyns W.B. Polyalanine expansion of ARX associated with cryptogenic West syndrome. Neurology 2003, 61(2):267-276.
22. Kato M., Yamagata T., Kubota M., et al. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia 2013, 54(7):1282-1287.
23. Kleefstra T., Smidt M., Banning M.J., et al. Disruption of the gene euchromatin histone methyl transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J.Med. Genet. 2005, 42(4):299-306.
24. Komoike Y., Fujii K., Nishimura A., et al. Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly. Genesis 2010, 48(4):233-243.
25. Kumar S., Harvey K.F., Kinoshita M., Copeland N.G., Noda M., Jenkins N.A. cDNA cloning, expression analysis, and mapping of the mouse Nedd4 gene. Genomics 1997, 40(3):435-443.
26. Lagae L., Verhelst H., Ceulemans B., et al. Treatment and long term outcome in West syndrome: the clinical reality. A multicentre follow up study. Seizure 2010, 19(3):159-164.
27. Le Meur N., Holder-Espinasse M., Jaillard S., et al. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. J.Med. Genet. 2010, 47(1):22-29.
28. Lemke J.R., Lal D., Reinthaler E.M., et al. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat. Genet. 2013, 45(9):1067-1072.
29. Lesca G., Rudolf G., Bruneau N., et al. GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat. Genet. 2013, 45(9):1061-1066.
30. Lux A.L., Osborne J.P. Aproposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi group. Epilepsia 2004, 45(11):1416-1428.
31. Marshall C.R., Young E.J., Pani A.M., et al. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am. J. Hum. Genet. 2008, 83(1):106-111.
32. Mignot C., Moutard M.L., Trouillard O., et al. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia 2011, 52(10):1820-1827.
33. Milh M., Boutry-Kryza N., Sutera-Sardo J., et al. Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. Orphanet J. Rare Dis. 2013, 8:80.
34. Osborne J.P., Lux A.L., Edwards S.W., et al. The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification. Epilepsia 2010, 51(10):2168-2174.
35. Paciorkowski A.R., Thio L.L., Dobyns W.B. Genetic and biologic classification of infantile spasms. Pediatr. Neurol. 2011, 45(6):355-367.
36. Paciorkowski A.R., Traylor R.N., Rosenfeld J.A., et al. MEF2C haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics 2013, 14(2):99-111.
37. Pavone P., Striano P., Falsaperla R., Pavone L., Ruggieri M. Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013. Brain Dev. 2014, 36(9):739-751.
38. Pellock J.M., Hrachovy R., Shinnar S., et al. Infantile spasms: a U.S. consensus report. Epilepsia 2010, 51(10):2175-2189.
39. Poulat A.L., Lesca G., Sanlaville D., Blanchard G., Lion-François L., Rougeot C., des Portes V., Ville D. Aproposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology. Eur. J. Paediatr. Neurol. 2014, 18(2):176-182.
40. Röthlisberger B., Hoigné I., Huber A.R., Brunschwiler W., Capone Mori A. Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2. Am. J. Med. Genet. A 2010, 152A(2):434-437.
41. Saitsu H., Kato M., Mizuguchi T., et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat. Genet. 2008, 40(6):782-788.
42. Saitsu H., Kato M., Okada I., et al. STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. Epilepsia 2010, 2397-2405.
43. Shi X., Yasumoto S., Kurahashi H., et al. Clinical spectrum of SCN2A mutations. Brain Dev. 2012, 34(7):541-545.
44. Strug L.J., Clarke T., Chiang T., et al. Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). Eur. J. Hum. Genet. 2009, 17(9):1171-1181.
45. Sundaram S.K., Chugani H.T., Tiwari V.N., Huq A.H. SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism. Pediatr. Neurol. 2013, 49(1):46-49.
46. Tavassoli T., Kolevzon A., Wang A.T., et al. De novo SCN2A splice site mutation in a boy with Autism spectrum disorder. BMC Med. Genet. 2014, 15(1):35.
47. Vecchi M., Cassina M., Casarin A., et al. Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A. Seizure 2011, 20(10):813-816.
48. Weaving L.S., Christodoulou J., Williamson S.L., et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am. J. Hum. Genet. 2004, 75(6):1079-1093.
49. Weckhuysen S., Mandelstam S., Suls A., et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann. Neurol. 2012, 71(1):15-25.
50. Weckhuysen S., Holmgren P., Hendrickx R., et al. Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. Epilepsia 2013, 54(5):74-80.
51. Willemsen M.H., Beunders G., Callaghan M., et al. Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions. Clin. Genet. 2011, 80(1):31-38.
52. Willemsen M.H., Vulto-van Silfhout A.T., Nillesen W.M., et al. Update on Kleefstra syndrome. Mol. Syndromol. 2012, 2(3-5):202-212.
53. Zweier M., Gregor A., Zweier C., et al. Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum. Mutat. 2010, 31(6):722-733.