Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly

American Journal of Medical Genetics, Part A

Volumn 164, Issue 12, 2014, Pages 3137-3141

  Prontera, Paolo ^a   Ottaviani, Valentina ^a   Toccaceli, Daniela ^b   Rogaia, Daniela ^a   Ardisia, Carmen ^a   Romani, Rita ^a   Stangoni, Gabriela ^a   Pierini, Angiolo ^b   Donti, Emilio ^a  

^a UNIVERSITY OF PERUGIA   (Italy)

^b USL Umbria 1   (Italy)

Author keywords

Autism; CHD8 gene; Macrocephaly; Microdeletion 14q11.2; Recurrent syndrome; SUPT16H gene

Indexed keywords

ARTICLE; AUTISM; CASE REPORT; CHD8 GENE; CHILD; CHROMOSOME DELETION; CHROMOSOME DELETION 14Q11.2; ECHOLALIA; FACE DYSMORPHIA; FEMALE; GENE; GENETIC ASSOCIATION; HUMAN; INFANTILE HYPOTONIA; LANGUAGE DELAY; MACROCEPHALY; MOTOR DYSFUNCTION; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; RAB2B GENE; RETROGNATHIA; SCHOOL CHILD; SPEECH THERAPY; SUPT16H GENE; ALEXANDER DISEASE; CHROMOSOME 14; COMPARATIVE GENOMIC HYBRIDIZATION; GENETICS; PATHOLOGY;

CHD8 PROTEIN, HUMAN; DNA BINDING PROTEIN; TRANSCRIPTION FACTOR;

AUTISTIC DISORDER; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; COMPARATIVE GENOMIC HYBRIDIZATION; DNA-BINDING PROTEINS; FEMALE; HUMANS; MEGALENCEPHALY; TRANSCRIPTION FACTORS;

EID: 84911192168     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36741     Document Type: Article

References (19)

1. Batsukh T, Pieper L, Koszucka AM, von Velsen N, Hoyer-Fender S, Elbracht M, Bergman JE, Hoefsloot LH, Pauli S. 2010. CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. Hum Mol Genet 19:2858-2866.
2. Belotserkovskaya R, Oh S, Bondarenko VA, Orphanides G, Studitsky VM, Reinberg D. 2003. FACT facilitates transcription-dependent nucleosome alteration. Science 301:1090-1093.
3. Chelly J, Khelfaoui M, Francis F, Chérif B, Bienvenu T. 2006. Genetics and pathophysiology of mental retardation. Eur J Hum Genet 14:701-713.
4. Griesi-Oliveira K, Sunaga DY, Alvizi L, Vadasz E, Passos-Bueno MR. 2013. Stem cells as a good tool to investigate dysregulated biological systems in autism spectrum disorders. Autism Res 6:354-361.
5. Ishihara K, Oshimura M, Nakao M. 2006. CTCF-dependent chromatin insulator is linked to epigenetic remodeling. Mol Cell 23:733-742.
6. Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GC, Brown DL, Brudno M, Campbell J, FitzPatrick DR, Eppig JT, Jackson AP, Freson K, Girdea M, Helbig I, Hurst JA, Jähn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S, Martin CL, Moss C, Mumford A, Ouwehand WH, Park SM, Riggs ER, Scott RH, Sisodiya S, Van Vooren S, Wapner RJ, Wilkie AO, Wright CF, Vulto-van Silfhout AT, de Leeuw N, de Vries BB, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos GV, Haendel M, Smedley D, Lewis SE, Robinson PN. 2014. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res 42 (Database issue): D966-974.
7. Lupski JR, Stankiewicz P. 2005. Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 1:e49.
8. Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. 2012. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485:242-245.
9. Nishiyama M, Skoultchi AI, Nakayama KI. 2012. Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway. Mol Cell Biol 32:501-512.
10. O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J. 2012. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 338:1619-1622.
11. Prontera P, Bartocci A, Ottaviani V, Isidori I, Rogaia D, Ardisia C, Guercini G, Mencarelli A, Donti E. 2013. Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression? Mol Syndromol 4:197-202.
12. Risch N, Spiker D, Lotspeich L, Nouri N, Hinds D, Hallmayer J, Kalaydjieva L, McCague P, Dimiceli S, Pitts T, Nguyen L, Yang J, Harper C, Thorpe D, Vermeer S, Young H, Hebert J, Lin A, Ferguson J, Chiotti C, Wiese-Slater S, Rogers T, Salmon B, Nicholas P, Petersen PB, Pingree C, McMahon W, Wong DL, Cavalli-Sforza LL, Kraemer HC, Myers RM. 1999. A genomic screen of autism: Evidence for a multilocus etiology. Am J Hum Genet 65:493-507.
13. Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. 2012. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485:237-241.
14. Schellenberg GD, Dawson G, Sung YJ, Estes A, Munson J, Rosenthal E, Rothstein J, Flodman P, Smith M, Coon H, Leong L, Yu CE, Stodgell C, Rodier PM, Spence MA, Minshew N, McMahon WM, Wijsman EM. 2006. Evidence for multiple loci from a genome scan of autism kindreds. Mol Psychiatry 11:1049-1060.
15. Subtil-Rodríguez A, Vázquez-Chávez E, Ceballos-Chávez M, Rodríguez-Paredes M, Martín-Subero JI, Esteller M, Reyes JC. 2013. The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes. Nucleic Acids Res 2013 21. [Epub ahead of print].
16. Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF. 2012. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell 149:525-537.
17. Terrone G, Cappuccio G, Genesio R, Esposito A, Fiorentino V, Riccitelli M, Nitsch L, Brunetti-Pierri N, Del Giudice E. 2014. A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. Am J Med Genet 164A:190-193.
18. Welberg L. 2011. Autism: The importance of getting the dose right. Nat Rev Neurosci 12:429.
19. Zahir F, Firth HV, Baross A, Delaney AD, Eydoux P, Gibson WT, Langlois S, Martin H, Willatt L, Marra MA, Friedman JM. 2007. Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. J Med Genet 44:556-561.