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Chromosome 7q36, engrailed homeobox 2(EN2), the 16p11.2 region, 15q11.2, 15q13.3, 16p13.11; four regions located on 18q (MBD1, TCF4, NETO1, FBXO15); the PON1 gene; MECP2, TM4SF2, TSPAN7, PPP1R3F, PSMD10, MCF2, SLITRK2, GPRASP2, and OPHN1; encoding methyl CpG-binding protein 2; the SHANK2 synaptic scaffolding gene; the 5-HT(2A) receptor gene; neurexin-1 (NRXN1), chromosome 17p13.3, the two genes TUSC5 and YWHAE.
Cell adhesion molecule 1 (CADM1); RELN and GRIK2; MKL2 and SND1; chromosome Xp22.11-p21.2 that encompasses the IL1RAPL1 gene; the GABA receptor gamma 3 (GABRG3); neuroligin (NLGN4X); the FMR1 gene; region 10p14-p15, 7p22.1, the Q6NUR6 gene, JMJD2C gene at 9p24.1, 1p21.1, 6p21.3 and 8q21.13; Mecp2-null microglia; R1117X and R536W; SHANK3 mutations, GABA(A) receptor subunits, ASMT, MTNR1A, MTNR1B; RORA and BCL-2 proteins; DOCK4 microdeletion on 7q31.1, 2q14.3 microdeletion disrupting CNTNAP5; chromosome 2q24.2—>q24.3, telencephalic GABAergic neurons, position 614 of diaphanous homolog 3 (DIAPH3), 22q13.3.
Chromosome 2q37, 4q35.1-35.2, 8p23.2; chromosome 8p and 4q, P-glycoprotein gene (MDR1/ABCB1); glutamate transporter gene SLC1A1, IL1RAPL1 gene mutations, neuroligin mutants; SCAMP5, CLIC4 and PPCDC; fatty acid-binding protein (FABP7), 5-HT transporter gene (HTT, SERT, SLC6A4); proteins neurexin1 and PSD95; Cav3.2 T-type channels, chromosome 7q22-31 region; neuroligin-4 missense mutation; ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1, VMAT1; SLC18A1, microcephalin 1 gene (MCPH1).
Genetic polymorphisms of cytochrome P450 enzymes, 2p15-16.1, neurobeachin (Nbea); rs1858830 C allele variant, 3q26.31, serotonin receptor 2A gene (HTR2A); 1q42 deletion involving DISC1, DISC2, and TSNAX; alpha4beta 2 nicotinic acetylcholine receptors, adenosine A(2A) receptor gene (ADORA2A) variants; chromosome 1p34.2p34.3, synaptic vesicle gene RIMS3; microdeletions at 17q21.31, linkage loci on chromosomes 7 and 2; 2q37.3 deletion, neuroligin-3 R451C mutation; 2q24-2q31, 7q, 17q11-17q21; synaptic genes NLGN3, NLGN4, and CNTNAP2; dysfunctional ERK and PI3K signaling, ribosomal protein L10 (RPL10) gene, glutamate decarboxylase gene 1 (GAD1) located within chromosome 2q31.
Breakpoints on chromosomes 5 and 18; short arm of chromosome 20, chromosome 20p12.2, serotonin receptor genes HTR1B and HTR2C; genes at 3q25-27, deletion of chromosome 2p25.2, chromosome 10, chromosome 1q21.1; Joubert syndrome gene (AHI1), deletion in 6q16.1, including GPR63 and FUT9; duplication of 8p23.1-8p23.2, NLGN4Y gene, inverted duplication of proximal chromosome 14; SYNGAP1, DLGAP2, X-linked DDX53-PTCHD1 locus; interstitial deletion 9q31.2 to q33.1, methyl-CpG binding protein 1; balanced de novo translocation between chromosomes 2 and 9; contactin 4 (CNTN4), chromosome 2q24-q33 region, PAX6 gene; deletion on 18q12, chromosome 5q31, PTEN, 13q21.
Microdeletions at 7q11.23, chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q, 22q; FMR1 protein, FOXP2 gene; 2q35 and 8q21.2 breakpoint, sodium channels SCN1A, SCN2A and SCN3A; paternally derived chromosome 13, somatostatin receptor 5 (SSTR5) on chromosome 16p13.3; terminal 11q deletion and a distal 12q duplication, APOE protein, allelic variants of HOXA1/HOXB1; notch4 gene polymorphisms, AVP receptor 1a (AVPR1a), mitochondrial aspartate/glutamate carrier SLC25A12 gene; Arg451Cys-neuroligin-3 mutation, language loci on chromosomes 2, 7, and 13; de novo translocation t(5;18)(q33.1;q12.1), p11.2p12.2.
Mu-opioid receptor gene, chromosome 16p13.3, trisomy 15q25.2-qter; 14q32.3 deletion, autism loci on 17q and 19p, linkage at 17q11-17q21, linkage on 21q and 7q; 3q29 microdeletion, haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16; 6p25.3-22.3, SLC25A12 and CMYA3 gene variants; chromosome 3q25-27, inversion inv(4)(p12-p15.3), partial trisomy of chromosome 8p; locus in 15q14 region, terminal deletion of 4q, duplication at Xp11.22-p11.23; SEMA5A expression Tachykinin 1 (TAC1) gene SNPs, TPH2 and GLO1; biallelic PRODH mutation, recurrent 10q22-q23 deletions, neuropilin-2 (NRP2) gene polymorphisms.
Yes, I know—it might have taken less space to list the genetic features scientists have not implicated in autismís etiology.
Copyright © 2011 by Alan Griswold
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