Copy number variations in cryptogenic cerebral palsy

Neurology

Volumn 84, Issue 16, 2015, Pages 1660-1668

  Segel, Reeval ^a   Ben Pazi, Hilla ^a   Zeligson, Sharon ^a   Fatal Valevski, Aviva ^b   Aran, Adi ^a   Gross Tsur, Varda ^a   Schneebaum Sender, Nira ^b   Shmueli, Dorit ^c   Lev, Dorit ^d   Perlberg, Shira ^a   Blumkin, Luba ^d   Deutsch, Lisa ^e   Levy Lahad, Ephrat ^a  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b Dana Children's Hospital   (Israel)

^c Jerusalem Child Development Center   (Israel)

^d WOLFSON MEDICAL CENTER   (Israel)

^e Biostatistical Consulting   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CEREBRAL PALSY; CHILD; CHROMOSOME ANALYSIS; CLINICAL EXAMINATION; COMORBIDITY; CONTROLLED STUDY; COPY NUMBER VARIATION; CRYPTOGENIC CEREBRAL PALSY; EXTRAPYRAMIDAL SYMPTOM; FAMILY HISTORY; FEMALE; GENOTYPE PHENOTYPE CORRELATION; GROSS MOTOR FUNCTION CLASSIFICATION SYSTEM; HUMAN; INHERITANCE; INTELLECTUAL IMPAIRMENT; LEARNING DISORDER; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MOTOR DYSFUNCTION; PREVALENCE; PRIORITY JOURNAL; SECOND DEGREE RELATIVE; ADOLESCENT; CLINICAL TRIAL; GENETICS; ISRAEL; MULTICENTER STUDY; PATHOPHYSIOLOGY; PRESCHOOL CHILD;

ADOLESCENT; CEREBRAL PALSY; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; FEMALE; HUMANS; ISRAEL; MALE; PREVALENCE;

EID: 84928152189     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001494     Document Type: Article

References (28)

1. Smithers-Sheedy H, Badawi N, Blair E, et al. What constitutes cerebral palsy in the twenty-first century? Dev Med Child Neurol 2014;56:323-328.
2. Hemminki K, Li X, Sundquist K, Sundquist J. High familial risks for cerebral palsy implicate partial heritable aetiology. Paediatr Perinat Epidemiol 2007;21:235-241.
3. Shevell MI, Majnemer A, Morin I. Etiologic yield of cerebral palsy: a contemporary case series. Pediatr Neurol 2003;28:352-359.
4. Richer LP, Dower NA, Leonard N, Chan AK, Robertson CM. Familial recurrence of cerebral palsy with multiple risk factors. Case Rep Pediatr 2011;2011: 307857.
5. Vissers LE, de Vries BB, Veltman JA. Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis. J Med Genet 2010;47: 289-297.
6. Roberts JL, Hovanes K, Dasouki M, Manzardo AM, Butler MG. Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Gene 2014; 535:70-78.
7. 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.
8. Dale RC, Grattan-Smith P, Nicholson M, Peters GB. Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study. Dev Med Child Neurol 2012;54: 618-623.
9. Rosenbaum PL, Palisano RJ, Bartlett DJ, Galuppi BE, Russell DJ. Development of the Gross Motor Function Classification System for cerebral palsy. Dev Med Child Neurol 2008;50:249-253.
10. Oeffinger DJ, Tylkowski CM, Rayens MK, et al. Gross Motor Function Classification System and outcome tools for assessing ambulatory cerebral palsy: a multicenter study. Dev Med Child Neurol 2004;46:311-319.
11. Arner M, Eliasson AC, Nicklasson S, Sommerstein K, Hagglund G. Hand function in cerebral palsy: report of 367 children in a population-based longitudinal health care program. J Hand Surg Am 2008;33:1337-1347.
12. South ST, Lee C, Lamb AN, Higgins AW, Kearney HM; Working Group for the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genet Med 2013;15:901-909.
13. Hentati A, Deng HX, Zhai H, et al. Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. Neurology 2000;55:1388-1390.
14. Paciorkowski AR, Traylor RN, Rosenfeld JA, et al. MEF2C haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics 2013; 14:99-111.
15. Doorn JM, Kruer MC. Newly characterized forms of neurodegeneration with brain iron accumulation. Curr Neurol Neurosci Rep 2013;13:413.
16. Lerer I, Sagi M, Meiner V, Cohen T, Zlotogora J, Abeliovich D. Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. Hum Mol Genet 2005;14: 3911-3920.
17. Clayton-Smith J, Walters S, Hobson E, et al. Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. Eur J Hum Genet 2009;17:434-443.
18. Peall KJ, Lumsden D, Kneen R, et al. Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum. Dev Med Child Neurol 2014;56: 642-648.
19. Kozlowski P, Roberts P, Dabora S, et al. Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet 2007;121:389-400.
20. de Koning MB, Boot E, Bloemen OJ, et al. Startle reactivity and prepulse inhibition of the acoustic startle response are modulated by catechol-O-methyl-transferase Val(158) Met polymorphism in adults with 22q11 deletion syndrome. J Psychopharmacol 2012;26:1548-1560.
21. Baralle D, Trump D, Ffrench-Constant C, Dick DJ. Myoclonic movement disorder associated with microdeletion of chromosome 22q11. J Neurol Neurosurg Psychiatry 2002; 73:600-601.
22. Fuchs T, Saunders-Pullman R, Masuho I, et al. Mutations in GNAL cause primary torsion dystonia. Nat Genet 2013;45:88-92.
23. Tsurusaki Y, Saitoh S, Tomizawa K, et al. A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. Neurogenetics 2012;13: 327-332.
24. McMichael G, Girirajan S, Moreno-De-Luca A, et al. Rare copy number variation in cerebral palsy. Eur J Hum Genet 2014;22:40-45.
25. Miller SP, Wu YW, Lee J, et al. Candidate gene polymorphisms do not differ between newborns with stroke and normal controls. Stroke 2006;37:2678-2683.
26. 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.
27. Williams NM, Zaharieva I, Martin A, et al. Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis. Lancet 2010;376:1401-1408.
28. Striano P, Coppola A, Paravidino R, et al. Clinical significance of rare copy number variations in epilepsy: a casecontrol survey using microarray-based comparative genomic hybridization. Arch Neurol 2012;69:322-330.