Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services
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- 作者：Jennifer L. Roberts ; Karine Hovanes ; Majed Dasouki ; Ann M. Manzardo ; Merlin G. Butler
- 关键词：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 dependen
- 刊名：Gene
- 出版年：1 February, 2014
- 年：2014
- 卷：535
- 期：1
- 页码：70-78
- 全文大小：523 K
文摘
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.