Determination of genetic changes in etiology of autism spectrum disorder in twins by whole-exome sequencing

Ceyda Hayretdag; Pinar Algedik; Cumhur Gokhan Ekmekci; Ozlem Bozdagi Gunal; Umut Agyuz; Halime Yildirim; Ender Coskunpinar

doi:10.1016/j.genrep.2020.100618

Determination of genetic changes in etiology of autism spectrum disorder in twins by whole-exome sequencing

Ceyda Hayretdag, Pinar Algedik, Cumhur Gokhan Ekmekci, Ozlem Bozdagi Gunal, Umut Agyuz, Halime Yildirim, Ender Coskunpinar

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Abstract

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.

Original language	English
Article number	100618
Journal	Gene Reports
Volume	19
DOIs	https://doi.org/10.1016/j.genrep.2020.100618
State	Published - Jun 2020
Externally published	Yes

Keywords

Autism spectrum disorders
FMN2
Genetic mutation
KCNQ2
Monozygotic
NOTCH3
SHANK3
SLC6A4
TMRC6A
Whole exome sequencing

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title = "Determination of genetic changes in etiology of autism spectrum disorder in twins by whole-exome sequencing",

abstract = "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.",

keywords = "Autism spectrum disorders, FMN2, Genetic mutation, KCNQ2, Monozygotic, NOTCH3, SHANK3, SLC6A4, TMRC6A, Whole exome sequencing",

author = "Ceyda Hayretdag and Pinar Algedik and Ekmekci, {Cumhur Gokhan} and Gunal, {Ozlem Bozdagi} and Umut Agyuz and Halime Yildirim and Ender Coskunpinar",

note = "Publisher Copyright: {\textcopyright} 2020",

year = "2020",

month = jun,

doi = "10.1016/j.genrep.2020.100618",

language = "English",

volume = "19",

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AU - Hayretdag, Ceyda

AU - Algedik, Pinar

AU - Ekmekci, Cumhur Gokhan

AU - Gunal, Ozlem Bozdagi

AU - Agyuz, Umut

AU - Yildirim, Halime

AU - Coskunpinar, Ender

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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DO - 10.1016/j.genrep.2020.100618

M3 - Article

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SN - 2452-0144

VL - 19

JO - Gene Reports

JF - Gene Reports

M1 - 100618

ER -

Determination of genetic changes in etiology of autism spectrum disorder in twins by whole-exome sequencing

Abstract

Keywords

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