Genetic variation in the epigenetic machinery and mental health

Current Psychiatry Reports

Volumn 14, Issue 2, 2012, Pages 138-149

  Murgatroyd, Chris ^a   Spengler, Dietmar ^a  

^a MAX PLANCK INSTITUTE OF PSYCHIATRY   (Germany)

Author keywords

Chromatin; DNA methylation; Early life adversity; Epigenetics; Genetic variation; Genetics; Machinery; Mental health; Mood disorders; Neurodevelopmental disorders

Indexed keywords

HISTONE H3; LYSINE; PHOSPHORYLASE; POLYCOMB REPRESSIVE COMPLEX 2 PROTEIN; RECEPTOR ACTIVITY MODIFYING PROTEIN; REPRESSOR ELEMENT 1 SILENCING TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; DNA (CYTOSINE 5) METHYLTRANSFERASE; HISTONE;

ATRX GENE; BCOR GENE; CDKL5 GENE; CHD7 GENE; CHROMATIN ASSEMBLY AND DISASSEMBLY; CHROMATIN STRUCTURE; CPG ISLAND; CREBBP GENE; DEACETYLATION; DNA METHYLATION; DNA MODIFICATION; DNA SEQUENCE; DNMT1 GENE; DNMT3A GENE; DNMT3B GENE; DNMT3L GENE; EHMT1 GENE; EPIGENETICS; F29B9.2 GENE; GAD1 GENE; GENE ACTIVATION; GENE EXPRESSION; GENE PRODUCT; GENE REPRESSION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE ENVIRONMENT INTERACTION; GLP GENE; HDAC1 GENE; HDAC2 GENE; HDAC4 GENE; HDAC5 GENE; HDAC6 GENE; HDAC8 GENE; HISTONE ACETYLATION; HISTONE METHYLATION; HISTONE PHOSPHORYLATION; HISTONE UBIQUITINATION; HUWE1 GENE; JARID1C GENE; JARID2 GENE; MBD1 GENE; MBD2 GENE; MBD3 GENE; MBD4 GENE; MBD5 GENE; MECP2 GENE; MENTAL DISEASE; MENTAL HEALTH; MLL2 GENE; MOLECULAR BIOLOGY; NEUROLOGIC DISEASE; NONHUMAN; NSD1 GENE; P300 GENE; PATHOGENESIS; PHF6 GENE; PHF8 GENE; POSTNATAL DEVELOPMENT; REST GENE; REVIEW; RNF40 GENE; RSK4 GENE; SMARCA2 GENE; SMARCAL1 GENE; SMCX GENE; UBE2A GENE; ANIMAL; BIOLOGICAL MODEL; BRAIN; CHROMATIN; GENETIC EPIGENESIS; GENETICS; HUMAN; METABOLISM; MOUSE; PATHOPHYSIOLOGY;

ANIMALS; BRAIN; CHROMATIN; CPG ISLANDS; DNA (CYTOSINE-5-)-METHYLTRANSFERASE; DNA METHYLATION; EPIGENESIS, GENETIC; GENETIC VARIATION; HISTONES; HUMANS; MENTAL DISORDERS; MICE; MODELS, BIOLOGICAL;

EID: 84860608341     PISSN: 15233812     EISSN: 15351645     Source Type: Journal    
DOI: 10.1007/s11920-012-0255-1     Document Type: Review

References (100)

1. Murgatroyd C, Spengler D. Epigenetics of early child development. Front Psychiatry. 2011;2:16.
2. McGowan PO, Sasaki A, D'Alessio AC, et al. Epigenetic regulation of the glucocorticoid receptor in human brain associates with childhood abuse. Nat Neurosci. 2009;12(3):342-8. GR expression was lower in the brains of the suicide victims who suffered childhood abuse, consistent with high levels ofmethylation on the gene.
3. Hansen RS, Wijmenga C, Luo P, et al. The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc Natl Acad Sci USA. 1999;96:14412-7. (Pubitemid 30000664)
4. Klein CJ, Botuyan MV, Wu Y, et al. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet. 2011;43(6):595-600.
5. LaPlant Q, Vialou V, Covington 3rd HE, et al. Dnmt3a regulates emotional behaviour and spine plasticity in the nucleus accumbens. Nat Neurosci. 2010;13(9):1137-43. This study evidenced the importance of DNA methylation and DNMT3a in regulating neuronal and behavioral plasticity to emotional stimuli.
6. Miller CA, Sweatt JD. Covalent modification of DNA regulates memory formation. Neuron. 2007;53(6):857-69. (Pubitemid 46367557)
7. Hutnick LK, Golshani P, Namihira M, et al. DNA hypomethylation restricted to the murine forebrain induces cortical degeneration and impairs postnatal neuronal maturation. Hum Mol Genet. 2009;18(15):2875-88.
8. Kolodkin MH, Auger AP. Sex difference in the expression of DNA methyltransferase3a (DNMT3a) in the rat amygdala during development. J Neuroendocrinol. 2011;23(7):577-83.
9. Menger Y, Bettscheider M, Murgatroyd C, et al. Sex differences in brain epigenetics. Epigenomics. 2010;2(6):807-21.
10. Peerbooms OL, van Os J, Drukker M, et al. Meta-analysis of MTHFR gene variants in schizophrenia, bipolar disorder and unipolar depressive disorder: evidence for a common genetic vulnerability? Brain Behav Immun. 2011;25(8):1530-43.
11. Levav-Rabkin T, Blumkin E, Galron D, et al. Sex-dependent behavioral effects of Mthfr deficiency and neonatal GABA potentiation in mice. Behav Brain Res. 2011;216(2):505-13.
12. Zhou Z, Yuan Q, Mash DC, et al. Substance-specific and shared transcription and epigenetic changes in the human hippocampus chronically exposed to cocaine and alcohol. Proc Natl Acad Sci U S A. 2011;108(16):6626-31.
13. Ma DK, Jang MH, Guo JU, et al. Neuronal activity-induced Gadd45b promotes epigenetic DNA demethylation and adult neurogenesis. Science. 2009;323(5917):1074-7. This study demonstrates that Gadd45b is required for activity-induced DNA demethylation of specific promoters and expression of corresponding genes necessary for adult neurogenesis.
14. Lasalle JM, Yasui DH. Evolving role of MeCP2 in Rett syndrome and autism. Epigenomics. 2009;1(1):119-30.
15. Cobb S, Guy J, Bird A. Reversibility of functional deficits in experimental models of Rett syndrome. Biochem Soc Trans. 2010;38(2):498-506.
16. Lonetti G, Angelucci A, Morando L, et al. Early environmental enrichment moderates the behavioral and synaptic phenotype of MeCP2 null mice. Biol Psychiatry. 2010;67(7):657-65.
17. Murgatroyd C, Patchev AV, Wu Y, et al. Dynamic DNA methylation programs persistent adverse effects of early-life stress. Nat Neurosci. 2009;12(12):1559-66. This study highlights the role of MeCP2 in mediating early-life adversity.
18. Feng J, Nestler EJ. MeCP2 and drug addiction. Nat Neurosci. 2010;13(9):1039-41.
19. Petrij F, Giles RH, Dauwerse HG, et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature. 1995;376(6538):348-51.
20. Oliveira AM, Estévez MA, Hawk JD, et al. Subregion-specific p300 conditional knock-out mice exhibit long-term memory impairments. Learn Mem. 2011;18(3):161-9.
21. Lopez-Atalaya JP, Ciccarelli A, Viosca J, et al. CBP is required for environmental enrichment-induced neurogenesis and cognitive enhancement. EMBO J. 2011. doi:10.1038/emboj.2011.299. This study shows that environmental enrichment alters gene expression by modifying the epigenome and identifies CBP as an important mediator.
22. Hobara T, Uchida S, Otsuki K, et al. Altered gene expression of histone deacetylases in mood disorder patients. J Psychiatr Res. 2010;44:263-70.
23. Gavin DP, Kartan S, Chase K, et al. Histone deacetylase inhibitors and candidate gene expression: an in vivo and in vitro approach to studying chromatin remodeling in a clinical population. J Psychiatr Res. 2009;43:870-6.
24. Iga J, Ueno S, Yamauchi K, et al. Altered HDAC5 and CREB mRNA expressions in the peripheral leukocytes of major depression. Prog Neuropsychopharmacol Biol Psychiatry. 2007;31:628-32. (Pubitemid 46467041)
25. Belzeaux R, Formisano-Tréziny C, Loundou A, et al. Clinical variations modulate patterns of gene expression and define blood biomarkers in major depression. J Psychiatr Res. 2010;44(16):1205-13.
26. Tsankova NM, Berton O, Renthal W, et al. Sustained hippocampal chromatin regulation in a mouse model of depression and antidepressant action. Nat Neurosci. 2006;9:519-25.
27. Machado-Vieira R, Ibrahim L, Zarate Jr CA. Histone deacetylases and mood disorders: epigenetic programming in geneenvironment interactions. CNS Neurosci Ther. 2010. doi:10.1111/j.1755-5949.2010.00203.x.
28. Kleefstra T, Smidt M, Banning MJ, 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. (Pubitemid 40523951)
29. Balemans MC, Huibers MM, Eikelenboom NW, et al. Reduced exploration, increased anxiety, and altered social behavior: autistic-like features of euchromatin histone methyl transferase 1 heterozygous knockout mice. Behav Brain Res. 2010;208(1):47-55.
30. Covington 3rd HE, Maze I, Sun H, et al. A role for repressive histone methylation in cocaine-induced vulnerability to stress. Neuron. 2011;71(4):656-70. Repeated cocaine administration in mice increases the severity of depressive-like responses; G9a mediates these effects through histone methylation.
31. Poirier R, Jacquot S, Vaillend C, et al. Deletion of the Coffin-Lowry syndrome gene Rsk2 in mice is associated with impaired spatial learning and reduced control of exploratory behavior. Behav Genet. 2007;37(1):31-50. (Pubitemid 46144051)
32. van Bon BW, Koolen DA, Brueton L, et al. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet. 2010;18(2):163-70.
33. Juliandi B, Abematsu M, Nakashima K. Chromatin remodeling in neural stem cell differentiation. Curr Opin Neurobiol. 2010;20(4):408-15.
34. Koga M, Ishiguro H, Yazaki S, et al. Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia. Hum Mol Genet. 2009;18(13):2483-94. This study supports the role of an SWI/SNF factor as key to a wide range of pathophysiology associated with SZ.
35. Gibbons RJ, Wada T, Fisher CA, et al. Mutations in the chromatin-associated protein ATRX. Hum Mutat. 2008;29(6):796-802. (Pubitemid 351794130)
36. Bérubé NG, Mangelsdorf M, Jagla M, et al. The chromatinremodeling protein ATRX is critical for neuronal survival during corticogenesis. J Clin Invest. 2005;115(2):258-67. (Pubitemid 40385468)
37. Nogami T, Beppu H, Tokoro T, et al. Reduced expression of the ATRX gene, a chromatin-remodeling factor, causes hippocampal dysfunction in mice. Hippocampus. 2011;21(6):678-87.
38. Otsuki K, Uchida S, Wakabayashi Y, et al. Aberrant REST-mediated transcriptional regulation in major depressive disorder. J Psychiatr Res. 2010;44(6):378-84. This study links REST-mediated gene regulation to stress vulnerability.
39. Philibert RA. A meta-analysis of the association of the HOPA12bp polymorphism and schizophrenia. Psychiatric Genetics. 2006;16(2):73-6. (Pubitemid 44481208)
40. Hilton E, Johnston J, Whalen S, et al. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet. 2009;17(10):1325-35.
41. Weaver IC, Cervoni N, Champagne FA, et al. Epigenetic programming by maternal behavior. Nat Neurosci. 2004;7(8):847-54. (Pubitemid 38989508)
42. Zhang TY, Hellstrom IC, Bagot RC, et al. Maternal care and DNA methylation of a glutamic acid decarboxylase 1 promoter in rat hippocampus. J Neurosci. 2010;30(39):13130-7.
43. Uchida S, Hara K, Kobayashi A, et al. Epigenetic status of Gdnf in the ventral striatum determines susceptibility and adaptation to daily stressful events. Neuron. 2011;69(2):359-72.
44. Spratt EG, Nicholas JS, Brady KT, et al. Enhanced cortisol response to stress in children in autism. J Autism Dev Disord. 2011;41:505-11.
45. McGowan PO, Suderman M, Sasaki A, et al. Broad epigenetic signature of maternal care in the brain of adult rats. PLoS ONE. 2011;6(2):e14739.
46. Alarcón JM, Malleret G, Touzani K, et al. Chromatin acetylation, memory, and LTP are impaired in CBP+/-mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration. Neuron. 2004;42(6):947-59. (Pubitemid 38798233)
47. Korzus E, Rosenfeld MG, Mayford M. CBP histone acetyltransferase activity is a critical component of memory consolidation. Neuron. 2004;42(6):961-72. (Pubitemid 38798234)
48. Kubicek S, O'Sullivan RJ, August EM, et al. Reversal of H3K9me2 by a small molecule inhibitor for the G9a histone methyltransferase. Molecular Cell. 2007;25:473-81. (Pubitemid 46206139)
49. Veldic M, Caruncho HJ, Liu WS, et al. DNA-methyltransferase 1 mRNA is selectively overexpressed in telencephalic GABAergic interneurons of schizophrenia brains. Proc Natl Acad Sci U S A. 2004;101(1):348-53. (Pubitemid 38084253)
50. Higuchi F, Uchida S, Yamagata H, et al. State-dependent changes in the expression of DNA methyltransferases in mood disorder patients. J Psychiatr Res. 2011;45(10):1295-300.
51. Zhu Q, Wang L, Zhang Y, et al. Increased expression of DNA methyltransferase 1 and 3a in human temporal lobe epilepsy. J Mol Neurosci. 2011. doi:10.1007/s12031-011-9602-7.
52. Poulter MO, Du L, Weaver IC, et al. GABAA receptor promoter hypermethylation in suicide brain: implications for the involvement of epigenetic processes. Biol Psychiatry. 2008;64(8):645-52.
53. Zhang C, Fang Y, Xie B, et al. DNA methyltransferase3B gene increases risk of early onset schizophrenia. Neurosci Lett. 2009;462(3):308-11.
54. Zhubi A, Veldic M, Puri NV, et al. An upregulation of DNA-methyltransferase 1 and 3a expressed in telencephalic GABAergic neurons of schizophrenia patients is also detected in peripheral blood lymphocytes. Schizophr Res. 2009;111(1-3):115-22.
55. Bönsch D, Lenz B, Fiszer R, et al. Lowered DNA methyltransferase (DNMT-3b) mRNA expression is associated with genomic DNA hypermethylation in patients with chronic alcoholism. J Neural Transm. 2006;113(9):1299-304. (Pubitemid 44291023)
56. Haggarty P, Hoad G, Harris SE, et al. Human intelligence and polymorphisms in the DNA methyltransferase genes involved in epigenetic marking. PLoS One. 2010;5(6):e11329.
57. Li H, Yamagata T, Mori M, et al. Mutation analysis of methyl-CpG binding protein family genes in autistic patients. Brain Dev. 2005;27(5):321-5. (Pubitemid 40991750)
58. Allan AM, Liang X, Luo Y, et al. The loss of methyl-CpG binding protein 1 leads to autism-like behavioral deficits. Hum Mol Genet. 2008;17(13):2047-57. (Pubitemid 351865853)
59. Hendrich B, Guy J, Ramsahoye B, Wilson VA, Bird A. Closely related proteins MBD2 and MBD3 play distinctive but interacting roles in mouse development. Genes Dev. 2001;15:710-23. (Pubitemid 32244900)
60. Cukier HN, Rabionet R, Konidari I, et al. Novel variants identified in methyl-CpG binding domain genes in autistic individuals. Neurogenetics. 2010;11(3):291-303.
61. Benes FM, Lim B, Subburaju S. Site-specific regulation of cell cycle and DNA repair in post-mitotic GABA cells in schizophrenic versus bipolars. Proc Natl Acad Sci U S A. 2009;106(28):11731-6.
62. Williams SR, Mullegama SV, Rosenfeld JA, et al. Haploinsufficiency of MBD5associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Eur J Hum Genet. 2010;18(4):436-41.
63. Sharma RP, Grayson DR, Gavin DP. Histone deactylase 1 expression is increased in the prefrontal cortex of schizophrenia subjects: analysis of the National Brain Databank microarray collection. Schizophr Res. 2008;98(1-3):111-7. (Pubitemid 350235899)
64. Benes FM, Lim B, Matzilevich D, et al. Regulation of the GABA cell phenotype in hippocampus of schizophrenics and bipolars. Proc Natl Acad Sci U S A. 2007;104(24):10164-9. (Pubitemid 47175280)
65. Montgomery RL, Hsieh J, Barbosa AC, et al. Histone deacetylases 1 and 2 control the progression of neural precursors to neurons during brain development. Proc Natl Acad Sci USA. 2009;106(19):7876-81.
66. Williams SR, Aldred MA, DerKaloustian VM, et al. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum Genet. 2010;87(2):219-28.
67. Kim T, Park JK, Kim HJ, et al. Association of histone deacetylase genes with schizophrenia in Korean population. Psychiatry Res. 2010;178(2):266-9.
68. Renthal W, Maze I, Krishnan V, et al. Histone deacetylase 5 epigenetically controls behavioral adaptations to chronic emotional stimuli. Neuron. 2007;56(3):517-29. (Pubitemid 350030878)
69. Simon D, Laloo B, Barillot M, et al. A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia. Hum Mol Genet. 2010;19(10):2015-27.
70. Haberland M, Mokalled MH, Montgomery RL, et al. Epigenetic control of skull morphogenesis by histone deacetylase 8. Genes Dev. 2009;23(14):1625-30.
71. Roelfsema JH, White SJ, Ariyürek Y, et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005;76:572-80. (Pubitemid 40432165)
72. Adegbola A, Gao H, Sommer S, et al. A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD). Am J Med Genet A. 2008;146A(4):505-11. (Pubitemid 351206826)
73. Laumonnier F, Holbert S, Ronce N, et al. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. J Med Genet. 2005;42(10):780-6. (Pubitemid 41475255)
74. Kurotaki N, Imaizumi K, Harada N, et al. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet. 2002;30(4):365-6.
75. Akbarian S, Huang HS. Epigenetic regulation in human brainfocus on histone lysine methylation. Biol Psychiatry. 2009;65(3):198-203.
76. Kim SY, Levenson JM, Korsmeyer S, et al. Developmental regulation of EED complex composition governs a switch in global histone modification in brain. J Biol Chem. 2007;282:9962-72. (Pubitemid 47104642)
77. Pereira JD, Sansom SN, Smith J, et al. Ezh2, the histone methyltransferase of PRC2, regulates the balance between self-renewal and differentiation in the cerebral cortex. Proc Natl Acad Sci U S A. 2010;107(36):15957-62.
78. Schaefer A, Sampath SC, Intrator A, et al. Control of cognition and adaptive behaviour by the GLP/G9a epigenetic suppressor complex. Neuron. 2009;64(5):678-91.
79. Ng SB, Bigham AW, Buckingham KJ, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010;42(9):790-3.
80. Hanauer A, Young ID. Coffin-Lowry syndrome: clinical and molecular features. J Med Genet. 2002;39(10):705-13. (Pubitemid 35178719)
81. Froyen G, Corbett M, Vandewalle J, et al. Submicroscopic duplications of the hydroxysteroiddehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet. 2008;82(2):432-43.
82. Zhao X, D'Arca D, Lim WK, et al. The N-Myc-DLL3 cascade is suppressed by the ubiquitin ligase Huwe1 to inhibit proliferation and promote neurogenesis in the developing brain. Dev Cell. 2009;17(2):210-21.
83. Nascimento RM, Otto PA, de Brouwer AP, et al. UBE2A, which encodes a ubiquitin conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. Am J Hum Genet. 2006;79(3):549-55. (Pubitemid 44384264)
84. Shen Y, Dies KA, Holm IA, et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010;125:727-35.
85. Pharmacogenomics J Gene expression in blood is associated with risperidone response in children with autism spectrum disorders. 2011. doi:10.1038/tpj.2011.23.
86. Roest HP, Baarends WM, de Wit J, et al. The ubiquitinconjugating DNA repair enzyme HR6A is a maternal factor essential for early embryonic development in mice. Mol Cell Biol. 2004;24(12):5485-95. (Pubitemid 38738180)
87. Liu Y, Chen G, Norton N, et al. Whole genome association study in a homogenous population in Shandong peninsula of China reveals JARID2 as a susceptibility gene for schizophrenia. J Biomed Biotechnol. 2009;2009:536918.
88. Boerkoel CF, Takashima H, John J, et al. Mutant chromatin remodeling protein SMARCAL1 causes Schimkeimmunoosseous dysplasia. Nat Genet. 2002;30(2):215-20.
89. Vissers LE, van Ravenswaaij CM, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004;36:955-7. (Pubitemid 39167490)
90. Layman WS, McEwen DP, Beyer LA, et al. Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Hum Mol Genet. 2009;18(11):1909-23.
91. Rademacher N, Hambrock M, Fischer U, et al. Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics. 2011;12(2):165-7.
92. Chen Q, Zhu YC, Yu J, et al. CDKL5, a protein associated with Rett syndrome, regulates neuronal morphogenesis via Rac1 signaling. J Neurosci. 2010;30(38):12777-86.
93. Yntema HG, van den Helm B, Kissing J, et al. A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. Genomics. 1999;62(3):332-43. (Pubitemid 30075162)
94. Ng D, Thakker N, Corcoran CM, et al. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet. 2004;36(4):411-6. (Pubitemid 38437266)
95. Lower KM, Turner G, Kerr BA, et al. Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. Nat Genet. 2002;32(4):661-5. (Pubitemid 35435181)
96. Tarpey PS, Smith R, Pleasance E, et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet. 2009;41:535-43.
97. Willemsen MH, Fernandez BA, Bacino CA, et al. Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet. 2010;18(4):429-35.
98. Nicolas E, Poitelon Y, Chouery E, et al. CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. Eur J Hum Genet. 2010;18(10):1107-13.
99. Schwartz CE, Tarpey PS, Lubs HA, et al. The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene. J Med Genet. 2007;44(7):472-7. (Pubitemid 47056877)
100. Hashimoto S, Boissel S, Zarhrate M, et al. MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. Science. 2011;333(6046):1161-3.