TY - JOUR
T1 - Determination of genetic changes in etiology of autism spectrum disorder in twins by whole-exome sequencing
AU - Hayretdag, Ceyda
AU - Algedik, Pinar
AU - Ekmekci, Cumhur Gokhan
AU - Gunal, Ozlem Bozdagi
AU - Agyuz, Umut
AU - Yildirim, Halime
AU - Coskunpinar, Ender
N1 - Funding Information:
This project was supported by the University of Health Sciences with Project No: 2017/032 and by TUBITAK ( T. C. The Scientific and Technological Research Council of Turkeys , vice presidency science fellowship and grant programs department) with Project No: 1059B191801982 .
Publisher Copyright:
© 2020
PY - 2020/6
Y1 - 2020/6
N2 - Twin studies provide strong evidence that genetic factors have a major role in the etiology of autism spectrum disorder (ASD) but in most patients the underlying genetic cause of the disease is unknown. Here we used whole-exome sequencing to study genome-wide differences in twins with autism in order to reveal the genetic changes responsible for the etiology of autism. DNA was isolated from peripheral blood samples from six monozygotic twins and one dizygotic twin and analyzed by OneSeq protocol, on an Illumina NextSeq platform. Bioinformatics analyses have revealed 110 disease-related genes, and after further filtering, we have identified 44 single nucleotide polymorphisms (SNPs). Functional network analysis has identified significant associations for 6 different genes, including known ASD candidate genes: FMN2, KCNQ2, NOTCH3, TMRC6A, SHANK3, and SLC6A4. Our results provide an independent evidence for known ASD genes and highlight other genes, which will further improve the understanding of the genetic basis of ASD.
AB - Twin studies provide strong evidence that genetic factors have a major role in the etiology of autism spectrum disorder (ASD) but in most patients the underlying genetic cause of the disease is unknown. Here we used whole-exome sequencing to study genome-wide differences in twins with autism in order to reveal the genetic changes responsible for the etiology of autism. DNA was isolated from peripheral blood samples from six monozygotic twins and one dizygotic twin and analyzed by OneSeq protocol, on an Illumina NextSeq platform. Bioinformatics analyses have revealed 110 disease-related genes, and after further filtering, we have identified 44 single nucleotide polymorphisms (SNPs). Functional network analysis has identified significant associations for 6 different genes, including known ASD candidate genes: FMN2, KCNQ2, NOTCH3, TMRC6A, SHANK3, and SLC6A4. Our results provide an independent evidence for known ASD genes and highlight other genes, which will further improve the understanding of the genetic basis of ASD.
KW - Autism spectrum disorders
KW - FMN2
KW - Genetic mutation
KW - KCNQ2
KW - Monozygotic
KW - NOTCH3
KW - SHANK3
KW - SLC6A4
KW - TMRC6A
KW - Whole exome sequencing
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U2 - 10.1016/j.genrep.2020.100618
DO - 10.1016/j.genrep.2020.100618
M3 - Article
AN - SCOPUS:85079007857
VL - 19
JO - Gene Reports
JF - Gene Reports
SN - 2452-0144
M1 - 100618
ER -