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

dc.contributor.authorMalherbe, P.J.
dc.contributor.authorRoos, J.L. Jr.
dc.contributor.authorEhlers, Rene
dc.contributor.authorKarayiorgou, Maria
dc.contributor.authorRoos, J.L. (Johannes Louw)
dc.date.accessioned2015-01-30T05:50:00Z
dc.date.available2015-01-30T05:50:00Z
dc.date.issued2015-01
dc.description.abstractGenome-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.librarianhb2015en_ZA
dc.description.urihttp://www.elsevier.com/locate/psychresen_ZA
dc.identifier.citationMalherbe, 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.issn0165-1781 (print)
dc.identifier.issn1872-7123 (online)
dc.identifier.other10.1016/j.psychres.2014.10.024
dc.identifier.urihttp://hdl.handle.net/2263/43492
dc.language.isoenen_ZA
dc.publisherElsevieren_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.subjectSingle nucleotide polymorphismen_ZA
dc.subjectPaternal ageen_ZA
dc.subjectRare mutationen_ZA
dc.subjectEarly devianceen_ZA
dc.subjectFunctional outcomeen_ZA
dc.subjectCopy number variants (CNVs)en_ZA
dc.subjectSingle Nucleotide variants (SNVs)en_ZA
dc.titlePhenotypic features of patients with schizophrenia carrying de novo gene mutations : a pilot studyen_ZA
dc.typePostprint Articleen_ZA

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