Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

PLoS Genetics

Volumn 9, Issue 10, 2013, Pages

  Sajan, Samin A ^a   Fernandez, Liliana ^b   Nieh, Sahar Esmaeeli ^b   Rider, Eric ^b   Bukshpun, Polina ^b   Wakahiro, Mari ^b   Christian, Susan L ^c   Rivière, Jean Baptiste ^d   Sullivan, Christopher T ^c   Sudi, Jyotsna ^e   Herriges, Michael J ^f   Paciorkowski, Alexander R ^g   Barkovich, A James ^h   Glessner, Joseph T ⁱ   Millen, Kathleen J ^c,j   Hakonarson, Hakon ^i,k   Dobyns, William B ^c,j,l   Sherr, Elliott H ^b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^d UNIVERSITÉ DE BOURGOGNE   (France)

^e UNIVERSITY OF CHICAGO   (United States)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

^g UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

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

^k UNIVERSITY OF PENNSYLVANIA   (United States)

^l UNIVERSITY OF WASHINGTON   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTISM; CEREBELLUM HYPOPLASIA; CHILD; CHROMOSOME 11P; CHROMOSOME 15Q; CHROMOSOME 16P; CHROMOSOME 1P; CHROMOSOME 1Q; CHROMOSOME 2Q; CHROMOSOME 5Q; CHROMOSOME 8P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; CORPUS CALLOSUM AGENESIS; EXECUTIVE FUNCTION; FEMALE; GENE SEQUENCE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PREVALENCE; QUANTITATIVE ANALYSIS; SCHOOL CHILD;

ADOLESCENT; ADULT; AGENESIS OF CORPUS CALLOSUM; CEREBELLUM; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; FEMALE; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INFANT; INFANT, NEWBORN; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MIDDLE AGED; NERVOUS SYSTEM MALFORMATIONS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84887281294     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1003823     Document Type: Article

References (69)

1. Lau YC, Hinkley LB, Bukshpun P, Strominger ZA, Wakahiro ML, et al. (2013) Autism traits in individuals with agenesis of the corpus callosum. J Autism Dev Disord 43: 1106-1118.
2. Marco EJ, Harrell KM, Brown WS, Hill SS, Jeremy RJ, et al. (2012) Processing speed delays contribute to executive function deficits in individuals with agenesis of the corpus callosum. J Int Neuropsychol Soc 18: 521-529.
3. Glass HC, Shaw GM, Ma C, Sherr EH, (2008) Agenesis of the corpus callosum in California 1983-2003: a population-based study. Am J Med Genet A 146A: 2495-2500.
4. Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, et al. (2008) Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A 146A: 1637-1654.
5. Parisi MA, Dobyns WB, (2003) Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Mol Genet Metab 80: 36-53.
6. Nakata Y, Barkovich AJ, Wahl M, Strominger Z, Jeremy RJ, et al. (2009) Diffusion abnormalities and reduced volume of the ventral cingulum bundle in agenesis of the corpus callosum: a 3T imaging study. AJNR Am J Neuroradiol 30: 1142-1148.
7. Sotiriadis A, Makrydimas G, (2012) Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review. Am J Obstet Gynecol 206: 337 e331-335.
8. Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, et al. (2007) Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. American journal of human genetics 81: 292-303.
9. Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, et al. (2012) High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet 131: 145-156.
10. Sherr EH, Owen R, Albertson DG, Pinkel D, Cotter PD, et al. (2005) Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. Neurology 65: 1496-1498.
11. Guo WJ, Callif-Daley F, Zapata MC, Miller ME, (1995) Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization. Am J Med Genet 58: 230-236.
12. Isik U, Basaran S, Dehgan T, Apak M, (2008) Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation. Pediatr Neurol 39: 55-57.
13. Kariminejad R, Lind-Thomsen A, Tumer Z, Erdogan F, Ropers HH, et al. (2011) High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. Hum Mutat 32: 1427-1435.
14. O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB, (2010) Identification of genomic loci contributing to agenesis of the corpus callosum. Am J Med Genet A 152A: 2145-2159.
15. Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, et al. (2013) Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. Am J Med Genet A 161A: 131-136.
16. Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, et al. (2009) FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet 41: 1037-1042.
17. Lim BC, Park WY, Seo EJ, Kim KJ, Hwang YS, et al. (2011) De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay. J Child Neurol 26: 615-618.
18. Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, et al. (2004) Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet 36: 1053-1055.
19. Cirillo E, Romano R, Romano A, Giardino G, Durandy A, et al. (2012) De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype. Am J Med Genet A 158A: 2571-2576.
20. Rocas D, Alix E, Michel J, Cordier MP, Labalme A, et al. (2013) Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia. Eur J Med Genet 56 (5) (): 270-3.
21. Mosca AL, Callier P, Faivre L, Marle N, Mejean N, et al. (2009) Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication. Am J Med Genet A 149A: 475-481.
22. Gerkes EH, Hordijk R, Dijkhuizen T, Sival DA, Meiners LC, et al. (2010) Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion. Eur J Med Genet 53: 344-346.
23. Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, et al. (2006) Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A 140: 2416-2425.
24. Wang K, Li M, Hadley D, Liu R, Glessner J, et al. (2007) PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17: 1665-1674.
25. Alexander AL, Lee JE, Lazar M, Boudos R, DuBray MB, et al. (2007) Diffusion tensor imaging of the corpus callosum in Autism. Neuroimage 34: 61-73.
26. Brito AR, Vasconcelos MM, Domingues RC, Hygino da Cruz LC Jr, Rodrigues Lde S, et al. (2009) Diffusion tensor imaging findings in school-aged autistic children. J Neuroimaging 19: 337-343.
27. Cheung C, Chua SE, Cheung V, Khong PL, Tai KS, et al. (2009) White matter fractional anisotrophy differences and correlates of diagnostic symptoms in autism. J Child Psychol Psychiatry 50: 1102-1112.
28. Egaas B, Courchesne E, Saitoh O, (1995) Reduced size of corpus callosum in autism. Arch Neurol 52: 794-801.
29. Hardan AY, Minshew NJ, Keshavan MS, (2000) Corpus callosum size in autism. Neurology 55: 1033-1036.
30. Keller TA, Kana RK, Just MA, (2007) A developmental study of the structural integrity of white matter in autism. Neuroreport 18: 23-27.
31. Mengotti P, D'Agostini S, Terlevic R, De Colle C, Biasizzo E, et al. (2011) Altered white matter integrity and development in children with autism: a combined voxel-based morphometry and diffusion imaging study. Brain Res Bull 84: 189-195.
32. Piven J, Bailey J, Ranson BJ, Arndt S, (1997) An MRI study of the corpus callosum in autism. Am J Psychiatry 154: 1051-1056.
33. Vidal CN, Nicolson R, DeVito TJ, Hayashi KM, Geaga JA, et al. (2006) Mapping corpus callosum deficits in autism: an index of aberrant cortical connectivity. Biol Psychiatry 60: 218-225.
34. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, et al. (2007) Strong association of de novo copy number mutations with autism. Science 316: 445-449.
35. Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, et al. (2008) Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82: 477-488.
36. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, et al. (2010) Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466: 368-372.
37. Itsara A, Wu H, Smith JD, Nickerson DA, Romieu I, et al. (2010) De novo rates and selection of large copy number variation. Genome research 20: 1469-1481.
38. Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, et al. (2011) Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism. Neuron 70: 863-885.
39. Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, et al. (2011) Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron 70: 886-897.
40. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, et al. (2010) Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American journal of human genetics 86: 749-764.
41. Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, et al. (2010) Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet 87: 282-288.
42. Vacic V, McCarthy S, Malhotra D, Murray F, Chou HH, et al. (2011) Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature 471: 499-503.
43. Levinson DF, Duan J, Oh S, Wang K, Sanders AR, et al. (2011) Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. The American journal of psychiatry 168: 302-316.
44. Clapham KR, Yu TW, Ganesh VS, Barry B, Chan Y, et al. (2012) FLNA genomic rearrangements cause periventricular nodular heterotopia. Neurology 78: 269-278.
45. Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, et al. (2005) Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. American journal of human genetics 77: 442-453.
46. Steele-Perkins G, Plachez C, Butz KG, Yang G, Bachurski CJ, et al. (2005) The transcription factor gene Nfib is essential for both lung maturation and brain development. Molecular and cellular biology 25: 685-698.
47. das Neves L, Duchala CS, Tolentino-Silva F, Haxhiu MA, Colmenares C, et al. (1999) Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum. Proceedings of the National Academy of Sciences of the United States of America 96: 11946-11951.
48. Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, et al. (2007) NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS genetics 3: e80.
49. Need AC, Ge D, Weale ME, Maia J, Feng S, et al. (2009) A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS genetics 5: e1000373.
50. Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, et al. (2007) Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Human mutation 28: 674-682.
51. Alkuraya FS, Cai X, Emery C, Mochida GH, Al-Dosari MS, et al. (2011) Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. American journal of human genetics 88: 536-547.
52. Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, et al. (2011) The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. American journal of human genetics 88: 523-535.
53. Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, et al. (2013) Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. Am J Med Genet A 161: 1523-1530.
54. Terrone G, D'Amico A, Imperati F, Carella M, Palumbo O, et al. (2012) A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients. Eur J Med Genet 55: 466-471.
55. Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, et al. (2012) Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. Nature genetics 44: 636-638.
56. Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, et al. (2012) Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nature genetics 44: 639-641.
57. Curry CJ, Lammer EJ, Nelson V, Shaw GM, (2005) Schizencephaly: heterogeneous etiologies in a population of 4 million California births. American journal of medical genetics Part A 137: 181-189.
58. Limperopoulos C, Chilingaryan G, Sullivan N, Guizard N, Robertson RL, et al. (2012) Injury to the Premature Cerebellum: Outcome is Related to Remote Cortical Development. Cereb Cortex first published online November 11, 2012 doi:10.1093/cercor/bhs354.
59. Poretti A, Leventer RJ, Cowan FM, Rutherford MA, Steinlin M, et al. (2008) Cerebellar cleft: a form of prenatal cerebellar disruption. Neuropediatrics 39: 106-112.
60. Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, et al. (2012) Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. Biol Psychiatry 71: 392-402.
61. Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, et al. (2009) Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry 66: 947-956.
62. Rudan I, (2010) New technologies provide insights into genetic basis of psychiatric disorders and explain their co-morbidity. Psychiatr Danub 22: 190-192.
63. Van Den Bossche MJ, Johnstone M, Strazisar M, Pickard BS, Goossens D, et al. (2012) Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not? Am J Med Genet B Neuropsychiatr Genet 159B: 812-822.
64. Frazier TW, Hardan AY, (2009) A meta-analysis of the corpus callosum in autism. Biol Psychiatry 66: 935-941.
65. Boersma M, Kemner C, de Reus MA, Collin G, Snijders TM, et al. (2013) Disrupted functional brain networks in autistic toddlers. Brain Connect 3: 41-49.
66. Anderson JS, Druzgal TJ, Froehlich A, DuBray MB, Lange N, et al. (2011) Decreased interhemispheric functional connectivity in autism. Cereb Cortex 21: 1134-1146.
67. Miller VM, Gupta D, Neu N, Cotroneo A, Boulay CB, et al. (2013) Novel inter-hemispheric white matter connectivity in the BTBR mouse model of autism. Brain Res 1513: 26-33.
68. Hinkley LB, Marco EJ, Findlay AM, Honma S, Jeremy RJ, et al. (2012) The role of corpus callosum development in functional connectivity and cognitive processing. PLoS One 7: e39804.
69. Faul F, Erdfelder E, Buchner A, Lang AG, (2009) Statistical power analyses using G*Power 3.1: tests for correlation and regression analyses. Behav Res Methods 41: 1149-1160.