Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations

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Toraman, Bayram and Bilginer, Samiye Çilem and Hesapçıoğlu, Selma Tural and Göker, Zeynep and Soykam, Hüseyin Okan and Ergüner, Bekir and Dinçer, Tuba and Yıldız, Gökhan and Ünsal, Serbülent and Kasap, Burak Kaan and Kandil, Sema and Kalay, Ersan (2021) Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations. Journal of Gene Medicine, 23 (4). ISSN 1099-498X (Print) 1521-2254 (Online)

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Abstract

Background: Genetic etiologies of autism spectrum disorders (ASD) are complex, and the genetic factors identified so far are very diverse. In complex genetic diseases such as ASD, de novo or inherited chromosomal abnormalities are valuable findings for researchers with respect to identifying the underlying genetic risk factors. With gene mapping studies on these chromosomal abnormalities, dozens of genes have been associated with ASD and other neurodevelopmental genetic diseases. In the present study, we aimed to idenitfy the causative genetic factors in patients with ASD who have an apparently balanced chromosomal translocation in their karyotypes. Methods: For mapping the broken genes as a result of chromosomal translocations, we performed whole genome DNA sequencing. Chromosomal breakpoints and large DNA copy number variations (CNV) were determined after genome alignment. Identified CNVs and single nucleotide variations (SNV) were evaluated with VCF-BED intersect and Gemini tools, respectively. A targeted resequencing approach was performed on the JMJD1C gene in all of the ASD cohorts (220 patients). For molecular modeling, we used a homology modeling approach via the SWISS-MODEL. Results: We found that there was no contribution of the broken genes or regulator DNA sequences to ASD, whereas the SNVs on the JMJD1C, CNKSR2 and DDX11 genes were the most convincing genetic risk factors for underlying ASD phenotypes. Conclusions: Genetic etiologies of ASD should be analyzed comprehensively by taking into account of the all chromosomal structural abnormalities and de novo or inherited CNV/SNVs with all possible inheritance patterns.
Item Type: Article
Uncontrolled Keywords: apparently balanced chromosomal translocation; autism spectrum disorder; CNKSR2; DDX11; JMJD1C; next generation sequencing
Divisions: Faculty of Engineering and Natural Sciences > Academic programs > Biological Sciences & Bio Eng.
Faculty of Engineering and Natural Sciences
Depositing User: Bekir Ergüner
Date Deposited: 03 Sep 2022 15:42
Last Modified: 03 Sep 2022 15:42
URI: https://research.sabanciuniv.edu/id/eprint/43412

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