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dc.contributor.author Klein Izabella
dc.contributor.author Szőcs Katalin
dc.contributor.author Vincze Katalin
dc.contributor.author Benkovits, Judit
dc.contributor.author Somogyi Szilvia
dc.contributor.author Hermán Levente
dc.contributor.author Réthelyi, János
dc.date.accessioned 2017-04-11T11:14:55Z
dc.date.available 2017-04-11T11:14:55Z
dc.date.issued 2016
dc.identifier.citation pagination=209-218; journalVolume=18; journalIssueNumber=4; journalTitle=NEUROPSYCHOPHARMACOLOGIA HUNGARICA;
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/4245
dc.description.abstract Schizophrenia is a severe debilitating psychiatric disorder, with a typical onset in adolescence or early adulthood. This condition is characterized by heterogeneous symptoms (hallucinations, delusions, disorganized behaviour, affective flattening, and social isolation) and a life-time prevalence of 0.5-1.2%. In spite of the efforts to uncover the etiology of the disorder, its pathogenesis and neurobiological background are poorly understood. Given the high heritability in schizophrenia, genetic research remains an important area of focus. Besides the common variations of low penetrance - single nucleotid polymorphisms (SNPs) -, rare variants, mainly copy number variations (CNVs) play a role in the genetic architecture of the disorder. The most frequent CNV associated with schizophrenia is the hemizygous deletion of the 22q11.2 region. According to previous research this genetic variant occurs in 1% of the patients and conversely, 25% of the carriers of the 22q11.2 microdeletion will develop schizophrenia. The 22q11.2 deletion syndrome (22Q11DS, velocardiofacial (VCFS) syndrome, DiGeorge-syndrome) is usually a childhood diagnosis. Its prevalence is 1:2000-4000 considering all births. Patients can demonstrate heart developmental disorders, craniofacial (elongated face, hypertelorism), immunological (thymus-hypoplasia), endocrinological (hypocalcaemia) abnormalities, and neurodevelopmental alterations, but only a proportion will have these abnormalities due to incomplete penetrance. The variable symptoms complicate the recognition of the syndrome in the day to day medical practice. 25% of the known 22Q11DS patients develop schizophrenia but the risk of neuropsychiatric problems, like autism, ADHD and childhood conduct disorder is also increased, while early onset Parkinson's disease in also more frequent in adults. The schizophrenia phenotype is not distinguishable at the moment in patients with or without the 22q11 deletion. But emerging evidence suggests that early onset Parkinson's disease is more frequent in 22Q11DS and the effects of clozapine treatment could be different in schizophrenia with 22Q11DS. The question arises what is the incidence rate of the 22q11.2 microdeletion among our Hungarian DNA samples with schizophrenia. To answer the question, we utilized a new method used in routine genetic diagnostics, multiplex ligation-based probe amplification (MLPA). Although we genotyped the DNA of 315 Hungarian schizophrenia patients, we found no 22Q11DS in this cohort. The findings are discussed in terms of basic research and their translation into everyday clinical practice.
dc.relation.ispartof urn:issn:1419-8711
dc.title 22q11.2 deléciók azonosítási kisérlete magyar szkizofrénia biobank mintákon multiplex ligációs alapú próba amplifikáció (MLPA) módszerrel: irodalmi összefoglalás, módszertani leírás és eredmények
dc.type Journal Article
dc.date.updated 2017-04-04T11:02:34Z
dc.language.rfc3066 hu
dc.identifier.mtmt 3208207
dc.identifier.pubmed 28259864
dc.contributor.department SE/AOK/K/Pszichiátriai és Pszichoterápiás Klinika
dc.contributor.institution Semmelweis Egyetem


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