Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services

Authors:	Jennifer L Roberts Karine Hovanes Majed Dasouki Ann M Manzardo Merlin G Butler

Institution:	1. Departments of Psychiatry, Behavioral Sciences and Pediatrics, The University of Kansas, Medical Center, Kansas City, KS, USA;2. CombiMatrix Diagnostics, Irvine, CA, USA;3. Department of Neurology, The University of Kansas Medical Center, Kansas City, KS, USA;4. King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

Abstract:	Chromosomal microarray analysis is now commonly used in clinical practice to identify copy number variants (CNVs) in the human genome. We report our experience with the use of the 105 K and 180 K oligonucleotide microarrays in 215 consecutive patients referred with either autism or autism spectrum disorders (ASD) or developmental delay/learning disability for genetic services at the University of Kansas Medical Center during the past 4 years (2009–2012). Of the 215 patients 140 males and 75 females (male/female ratio = 1.87); 65 with ASD and 150 with learning disability], abnormal microarray results were seen in 45 individuals (21%) with a total of 49 CNVs. Of these findings, 32 represented a known diagnostic CNV contributing to the clinical presentation and 17 represented non-diagnostic CNVs (variants of unknown significance). Thirteen patients with ASD had a total of 14 CNVs, 6 CNVs recognized as diagnostic and 8 as non-diagnostic. The most common chromosome involved in the ASD group was chromosome 15. For those with a learning disability, 32 patients had a total of 35 CNVs. Twenty-six of the 35 CNVs were classified as a known diagnostic CNV, usually a deletion (n = 20). Nine CNVs were classified as an unknown non-diagnostic CNV, usually a duplication (n = 8). For the learning disability subgroup, chromosomes 2 and 22 were most involved. Thirteen out of 65 patients (20%) with ASD had a CNV compared with 32 out of 150 patients (21%) with a learning disability. The frequency of chromosomal microarray abnormalities compared by subject group or gender was not statistically different. A higher percentage of individuals with a learning disability had clinical findings of seizures, dysmorphic features and microcephaly, but not statistically significant. While both groups contained more males than females, a significantly higher percentage of males were present in the ASD group.

Keywords:	A2BP1 ataxin 2-binding protein 1 gene ACADL acyl-coA dehydrogenase long chain gene aCGH array comparative genomic hybridization ACOXL acyl-coA oxidase-like gene ADIPOQ adipocyte- C1q- and collagen domain containing gene ANKRD11 ankyrin repeat domain-containing protein 11 gene ALS2CR8 ALS2 chromosome region gene 8 ANOVA analysis of variance ASD autism spectrum disorder BAC bacterial artificial chromosome BCL2L11 BCL2-like 11 gene CACNA1C calcium channel voltage dependent L-type alpha 1C subunit gene CHRNA7 cholinergic receptor neuronal nicotinic alpha polypeptide 7 gene CNV copy number variant COBL cordon-bleu gene CT computed tomography DLG1 discs large homolog 1 gene DLG4 discs large homolog 4 gene DNA deoxyribonucleic acid EEF1B2 eukaryotic translation elongation factor 1 beta-2 gene EEG electroencephalogram FAM117B family with sequence similarity 117 member B gene FAT1 FAT tumor suppressor 1 gene FBXO45 F-box only 45 gene FISH fluorescence in situ hybridization FXR2 fragile X mental retardation autosomal homolog 2 gene FZD5 frizzled 5 gene GALR1 galanin receptor 1 gene GATAD2B GATA zinc finger domain-containing protein 2B gene GZF1 GDNF-inducible zinc finger protein 1 gene HAX1 HCLS1-associated protein X1 gene HDAC histone deacetylase gene IDH1 isocitrate dehydrogenase 1 gene IL1RAPL1 interleukin 1 receptor accessory protein-like 1 gene ITPR1 inositol 1 4 5-triphosphate receptor type 1 gene KLF7 kruppel-like factor 7 gene KNG1 kininogen 1 gene LINS lines homolog gene LMNA lamin A gene MAP2 microtubule-associated protein 2 gene MBP myelin basic protein gene MRPL19 mitochondrial ribosomal protein L19 gene MYL1 myosin light peptide 1 gene NDUFS1 NADH-ubiquinone oxidoreductase Fe-S protein 1 gene NLGN2 neuroligin 2 gene NPHP1 nephrocystin 1 gene NRXN1 neurexin 1 gene PAK2 protein-activated kinase 2 gene PARK2 parkin gene PMP22 peripheral myelin protein 22 gene POLG polymerase gamma gene PRPF8 precursor mRNA-processing factor 8 gene PTEN phosphatase and tensin homolog gene PTH2R parathyroid hormone receptor 2 gene RPE ribulose 5-phosphate 3-epimerase gene SACS sacsin gene SD standard deviation SH2B1 SH2B adaptor protein 1 gene SHANK3 SH3 and multiple ankyrin repeat domains 3 gene SHOX short stature homeobox gene SMARCA4 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member gene STAG2 stromal antigen 2 gene SUMF1 sulfatase-modifying factor 1 gene TRAPPC2 tracking protein particle complex subunit 2 gene USP6 ubiquitin-specific protease 6 gene UCSC University of California Santa Cruz XIAP X-linked inhibitor of apoptosis gene YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon isoform gene ZNF407 zinc finger protein 407 gene
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