Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-07-27

AUTHORS

Yoshiro Morimoto, Shinji Ono, Akira Imamura, Yuji Okazaki, Akira Kinoshita, Hiroyuki Mishima, Hideyuki Nakane, Hiroki Ozawa, Koh-ichiro Yoshiura, Naohiro Kurotaki

ABSTRACT

Monozygotic (MZ) twins have been thought to be genetically identical. However, recent studies have shown discordant variants between them. We performed whole-exome sequencing (WES) in five MZ twin pairs with discordant neurodevelopmental disorders and one healthy control MZ twin to detect discordant variants. We identified three discordant variants confirmed by deep sequencing after analysis by personalized next-generation sequencing (NGS). Three mutations in FBXO38 (chr5:147774428;T>G), SMOC2 (chr6:169051385;A>G) and TDRP (chr8:442616;A>G), were detected with low allele frequency of mutant alleles on deep sequencing, suggesting that these loci are mosaic due to somatic mutations in a developmental stage. Our results suggest that deep sequencing analysis would be an adequate method to detect discordant mutations in candidate genes responsible for heritable diseases. More... »

PAGES

17032

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/hgv.2017.32

DOI

http://dx.doi.org/10.1038/hgv.2017.32

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1090906458

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28765789


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