en
Scientific article
Open access
English

Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes

Published inPloS one, vol. 9, no. 11, e112745
Publication date2014
Abstract

Schizophrenia (SCZ) is a severe, debilitating mental illness which has a significant genetic component. The identification of genetic factors related to SCZ has been challenging and these factors remain largely unknown. To evaluate the contribution of de novo variants (DNVs) to SCZ, we sequenced the exomes of 53 individuals with sporadic SCZ and of their non-affected parents. We identified 49 DNVs, 18 of which were predicted to alter gene function, including 13 damaging missense mutations, 2 conserved splice site mutations, 2 nonsense mutations, and 1 frameshift deletion. The average number of exonic DNV per proband was 0.88, which corresponds to an exonic point mutation rate of 1.7×10-8 per nucleotide per generation. The non-synonymous-to-synonymous mutation ratio of 2.06 did not differ from neutral expectations. Overall, this study provides a list of 18 putative candidate genes for sporadic SCZ, and when combined with the results of similar reports, identifies a second proband carrying a non-synonymous DNV in the RGS12 gene.

Citation (ISO format)
GUIPPONI, Michel et al. Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes. In: PloS one, 2014, vol. 9, n° 11, p. e112745. doi: 10.1371/journal.pone.0112745
Main files (1)
Article (Published version)
Identifiers
ISSN of the journal1932-6203
662views
382downloads

Technical informations

Creation11/26/2014 4:29:00 PM
First validation11/26/2014 4:29:00 PM
Update time03/14/2023 10:18:52 PM
Status update03/14/2023 10:18:51 PM
Last indexation02/12/2024 11:19:37 AM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack