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. 2020 Feb 21;10:3198. doi: 10.1038/s41598-020-59922-3

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Most notable CNVs intersecting SFARI genes. UCSC hg19 screenshots reporting the most notable CNVs impacting SFARI genes identified in our ASD sample and in controls. PsychArray probes are shown. (a) A 128 kb maternally inherited intronic deletion in the CNTNAP2 gene in case AB87. No CNVs in CNTNAP2 have been detected in our control cohort; (b) PARK2 CNVs in 2 cases (AB47 and AB156) and 5 controls; (c) RBFOX1 deletions in 2 cases (AB74 and AB86) and 2 controls; (d) WWOX non overlapping deletions in case AB139 and in one control subject; (e) A 236 kb paternally inherited deletion in the MACROD2 gene in case AB81. No CNVs in MACROD2 have been detected in our control cohort; (f) A 1.4–2.2 Mb paternally inherited deletion mapping in 15q13.1-q13.2 locus and impacting at least nine genes, including NDNL2 and APBA2. No CNVs in this locus have been found in our control sample; (g) CTNNA3 deletions in 2 cases (AB35 and AB119), one non-transmitting mother (mother of case AB145) and 6 controls.