Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes
Year: 2014
Type: article
Study design: Observational Study
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.
Source: PLoS ONE
Authors: Michel Guipponi, Federico A. Santoni, Vincent Setola, Corinne Gehrig, Maud Rotharmel, Macarena Cuenca, Olivier Guillin, Dimitris Dikeos, Georgios Georgantopoulos, George Papadimitriou, Logos Curtis, Alexandre Méary, Franck Schürhoff, Stéphane Jamain, Dimitri Avramopoulos, Marion Leboyer, Dan Rujescu, Ann Pulver, Dominique Campion, David P. Siderovski, Stylianos E. Antonarakis
Institutions: University of Geneva, University Hospital of Geneva, West Virginia University, Inserm, Centre Hospitalier du Rouvray, National and Kapodistrian University of Athens, Université Paris-Est Créteil, Fondation FondaMental, Assistance Publique – Hôpitaux de Paris, Hôpital Albert-Chenevier, Johns Hopkins University, Johns Hopkins Medicine, Martin Luther University Halle-Wittenberg, Institute of Genetics and Genomics in Geneva
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,382
Funders: National Science Foundation, Broad Institute, Fondation FondaMental, Agence Nationale de la Recherche, Institut National de la Santé et de la Recherche Médicale, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, National Center of Competence in Research Chemical Biology, National Institutes of Health, Intellectual and Developmental Disabilities Research Center, Stanley Center for Psychiatric Research, Broad Institute, National Institute of General Medical Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development
OpenAlex ID: W1969833479