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Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications
Author(s) -
Oikonomakis V.,
Kosma K.,
Mitrakos A.,
Sofocleous C.,
Pervanidou P.,
Syrmou A.,
Pampanos A.,
Psoni S.,
Fryssira H.,
Kanavakis E.,
KitsiouTzeli S.,
Tzetis M.
Publication year - 2016
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12740
Subject(s) - copy number variation , autism , genetics , intellectual disability , clinical significance , etiology , copy number analysis , chromosome , medical genetics , biology , medicine , bioinformatics , genome , gene , psychiatry
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.