Phenotypic features of patients with schizophrenia carrying de novo gene mutations : a pilot study

Show simple item record Malherbe, P.J. Roos, J.L. Jr. Ehlers, Rene Karayiorgou, Maria Roos, J.L. (Johannes Louw) 2015-01-30T05:50:00Z 2015-01-30T05:50:00Z 2015-01
dc.description.abstract Genome-wide scans have revealed a significant role for de novo copy number variants (CNVs) and Single Nucleotide variants (SNVs) in the genetic architecture of schizophrenia. The present study attempts to parse schizophrenia based on the presence of such de novo mutations and attempts genotype–phenotype correlation. We examined phenotypic variables across three broad categories: clinical presentation, premorbid function, disease course and functional outcome and compared them in individuals with schizophrenia carrying either a de novo CNV, a de novo SNV, or no de novo mutation. Work skills were worst affected in patients carrying de novo CNVs. More learning disabilities were found in subjects carrying de novo SNVs. Patients with either mutation had older parents at birth and worse functional outcome as measured by SLOF scores. We found no relation between treatment resistance and the presence of de novo mutations. The combined consideration of the functional outcome scores and early deviant behaviours was found to have higher predictive value for underlying genetic vulnerability. Due to the rare nature of the de novo mutations the sample sizes studied here were small. Despite this, valuable phenotypic characteristics were identified in schizophrenia patients carrying de novo mutations and studying larger samples will be of interest. en_ZA
dc.description.librarian hb2015 en_ZA
dc.description.uri en_ZA
dc.identifier.citation Malherbe, PJ, Roos, JL, Ehlers, R, Karayiorgou, M & Roos, JL 2015, 'Phenotypic features of patients with schizophrenia carrying de novo gene mutations : a pilot study', Psychiatry Research, vol. 225, no. 1-2, pp. 108-114. en_ZA
dc.identifier.issn 0165-1781 (print)
dc.identifier.issn 1872-7123 (online)
dc.identifier.other 10.1016/j.psychres.2014.10.024
dc.language.iso en en_ZA
dc.publisher Elsevier en_ZA
dc.rights © 2014 Elsevier Ireland Ltd. All rights reserved. Notice : this is the author’s version of a work that was accepted for publication in Psychiatry Research. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. A definitive version was subsequently published in Psychiatry Research, vol. 225, no. 1-2, pp. 108-114, 2015. doi : 10.1016/j.psychres.2014.10.024. en_ZA
dc.subject Single nucleotide polymorphism en_ZA
dc.subject Paternal age en_ZA
dc.subject Rare mutation en_ZA
dc.subject Early deviance en_ZA
dc.subject Functional outcome en_ZA
dc.subject Copy number variants (CNVs) en_ZA
dc.subject Single Nucleotide variants (SNVs) en_ZA
dc.title Phenotypic features of patients with schizophrenia carrying de novo gene mutations : a pilot study en_ZA
dc.type Postprint Article en_ZA

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