Sunday, June 20, 2010

Genetic Litany

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 autism's etiology.


jonathan said...

sort of makes you wonder what the basis of Temple Grandin's argument is that autism genes are responsible for all of these inventions and skills with computer's and how society would be doomed without these genes. I wonder which of these is responsible for all of those according to Grandin.

Alan Griswold said...

Sort of makes you wonder what the basis of Jonathan's argument is that autism genes are responsible for all of these disabilities and problems with life and how autistic individuals are doomed with these genes. I wonder which of these is responsible for all of those according to Jonathan.

jonathan said...

Well, Alan, hopefully someday science will advance to the point where we will know which one(s)