TY - JOUR
TI - Recurrent copy number variations as risk factors for autism spectrum disorders: Analysis of the clinical implications
AU - Oikonomakis, V.
AU - Kosma, K.
AU - Mitrakos, A.
AU - Sofocleous, C.
AU - Pervanidou, P.
AU - Syrmou, A.
AU - Pampanos, A.
AU - Psoni, S.
AU - Fryssira, H.
AU - Kanavakis, E.
AU - Kitsiou-Tzeli, S.
AU - Tzetis, M.
JO - Application of Clinical Genetics
PY - 2016
VL - 89
TODO - 6
SP - 708-718
PB - Wiley-Blackwell Publishing Ltd
SN - null
TODO - 10.1111/cge.12740
TODO - DNA, adolescent;  adult;  Autism Spectrum Disorder;  child;  chromosome aberration;  copy number variation;  female;  genetics;  human;  infant;  male;  microarray analysis;  preschool child;  procedures;  reproducibility;  risk factor;  sensitivity and specificity;  young adult, Adolescent;  Adult;  Autism Spectrum Disorder;  Child;  Child, Preschool;  Chromosome Aberrations;  DNA;  DNA Copy Number Variations;  Female;  Humans;  Infant;  Male;  Microarray Analysis;  Reproducibility of Results;  Risk Factors;  Sensitivity and Specificity;  Young Adult
TODO - Chromosomal microarray analysis (CMA) is currently considered a first-tier diagnostic assay for the investigation of autism spectrum disorders (ASD), developmental delay and intellectual disability of unknown etiology. High-resolution arrays were utilized for the identification of copy number variations (CNVs) in 195 ASD patients of Greek origin (126 males, 69 females). CMA resulted in the detection of 65 CNVs, excluding the known polymorphic copy number polymorphisms also found in the Database of Genomic Variants, for 51/195 patients (26.1%). Parental DNA testing in 20/51 patients revealed that 17 CNVs were de novo, 6 paternal and 3 of maternal origin. The majority of the 65 CNVs were deletions (66.1%), of which 5 on the X-chromosome while the duplications, of which 7 on the X-chromosome, were rarer (22/65, 33.8%). Fifty-one CNVs from a total of 65, reported for our cohort of ASD patients, were of diagnostic significance and well described in the literature while 14 CNVs (8 losses, 6 gains) were characterized as variants of unknown significance and need further investigation. Among the 51 patients, 39 carried one CNV, 10 carried two CNVs and 2 carried three CNVs. The use of CMA, its clinical validity and utility was assessed. © 2016 John Wiley & Sons A/S.
ER -