Literature DB >> 14594915

Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis. Molecular genetic study.

D Ivanov1, G Kirov, N Norton, H J Williams, N M Williams, I Nikolov, R Tzwetkova, S M Stambolova, K C Murphy, D Toncheva, A Thapar, M C O'Donovan, M J Owen.   

Abstract

BACKGROUND: Velo-cardio-facial syndrome (VCFS) is associated with interstitial deletions of chromosome 22q11. About 30% of patients with VCFS have psychosis, and the rate of these deletions in schizophrenia has been reported to be about 1%. Even higher rates of VCFS deletions have been reported for childhood-onset schizophrenia. AIMS: To test the hypothesis that there is an increased rate of VCFS among patients with early-onset psychosis (age at onset <18 years). We screened 192 early-onset patients and 329 patients with adult-onset schizophrenia.
METHOD: We genotyped the patients and 444 healthy controls for hemizygosity of five microsatellite markers and one single nucleotide polymorphism that map to the 22q11-deleted region.
RESULTS: One patient had a VCFS deletion, confirmed with semi-quantitative polymerase chain reaction. None of the controls showed a pattern of genotypes consistent with hemizygosity.
CONCLUSIONS: VCFS may be less frequent among patients with psychosis than previously suggested; this rate is not increased among early-onset patients.

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Year:  2003        PMID: 14594915     DOI: 10.1192/bjp.183.5.409

Source DB:  PubMed          Journal:  Br J Psychiatry        ISSN: 0007-1250            Impact factor:   9.319


  26 in total

Review 1.  Genetic abnormalities of chromosome 22 and the development of psychosis.

Authors:  Nigel M Williams; Michael J Owen
Journal:  Curr Psychiatry Rep       Date:  2004-06       Impact factor: 5.285

2.  Clinically detectable copy number variations in a Canadian catchment population of schizophrenia.

Authors:  Anne S Bassett; Gregory Costain; Wai Lun Alan Fung; Kathryn J Russell; Laura Pierce; Ronak Kapadia; Ronald F Carter; Eva W C Chow; Pamela J Forsythe
Journal:  J Psychiatr Res       Date:  2010-11       Impact factor: 4.791

3.  Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia.

Authors:  Mechteld L C Hoogendoorn; Jacob A S Vorstman; Gholam R Jalali; Jean-Paul Selten; Richard J Sinke; Beverly S Emanuel; René S Kahn
Journal:  Schizophr Res       Date:  2007-10-26       Impact factor: 4.939

4.  Support for the involvement of large copy number variants in the pathogenesis of schizophrenia.

Authors:  George Kirov; Detelina Grozeva; Nadine Norton; Dobril Ivanov; Kiran K Mantripragada; Peter Holmans; Nick Craddock; Michael J Owen; Michael C O'Donovan
Journal:  Hum Mol Genet       Date:  2009-01-29       Impact factor: 6.150

Review 5.  Genomic structural variation and schizophrenia.

Authors:  Jennifer Gladys Mulle
Journal:  Curr Psychiatry Rep       Date:  2008-04       Impact factor: 5.285

Review 6.  Clinical perspectives on the genetics of schizophrenia: a bottom-up orientation.

Authors:  Willem M A Verhoeven; Siegfried Tuinier
Journal:  Neurotox Res       Date:  2008-10       Impact factor: 3.911

Review 7.  The genetics of schizophrenia and bipolar disorder: dissecting psychosis.

Authors:  N Craddock; M C O'Donovan; M J Owen
Journal:  J Med Genet       Date:  2005-03       Impact factor: 6.318

Review 8.  Velocardiofacial syndrome: is there a neuropsychiatric phenotype?

Authors:  Edith M Jolin; Elizabeth B Weller; Ronald A Weller
Journal:  Curr Psychiatry Rep       Date:  2006-04       Impact factor: 5.285

9.  Psychotic features as the first manifestation of 22q11.2 deletion syndrome.

Authors:  So Dahm Kook; Suk Kyoon An; Kyung Ran Kim; Woo Jung Kim; Eun Lee; Kee Namkoong
Journal:  Psychiatry Investig       Date:  2010-02-19       Impact factor: 2.505

10.  Top-down or bottom-up: Contrasting perspectives on psychiatric diagnoses.

Authors:  Willem Ma Verhoeven; Siegfried Tuinier; Ineke van der Burgt
Journal:  Biologics       Date:  2008-09
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