Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia

Seal, Jeffrey; Gornick, Michele C.; Gogtay, Nitin; Shaw, Philip; Greenstein, Deanna; Coffey, M.P.; Gochman, Peter; Stromberg, Thomas; Chen, Z; Merriman, Barry; Nelson, Stanley F.; Brooks, Julia; Arepalli, Sampath; Vrièze, Fabienne Wavrant‐De; Hardy, John; Rapoport, Judith L.; Addington, Anjené

doi:10.1136/jmg.2006.043380

Cited by 25 publications

(21 citation statements)

References 27 publications

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“…Nine cases were detected by other approaches. One case of childhood onset schizophrenia associated with telomeric segmental isodisomy 5q was found during a whole genome screening of a cohort of patients with childhood onset schizophrenia 103. Zühlke et al described a case with spinocerebellar ataxia type 17 and a homozygous repeat expansion in the TBP gene 104.…”

Section: Segmental Upd Associated With a Normal Karyotypementioning

confidence: 99%

Complex and segmental uniparental disomy updated

Kotzot

2008

Journal of Medical Genetics

113

111

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Section: Segmental Upd Associated With a Normal Karyotypementioning

confidence: 99%

Complex and segmental uniparental disomy updated

Kotzot

2008

Journal of Medical Genetics

113

111

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“…41 Further interest in schizophrenia susceptibility on this chromosome has been stirred by a case report of a segmental uniparental isodisomy on 5q32-qter (the offspring receives two chromosomal homologs from one parent) in a patient with childhood-onset schizophrenia. 42 …”

Section: Chromosomementioning

confidence: 99%

The myelin-pathogenesis puzzle in schizophrenia: a literature review

2007

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Schizophrenia is a serious and disabling mental disorder with symptoms such as auditory hallucinations, disordered thinking and delusions, avolition, anhedonia, blunted affect and apathy. In this review article we seek to present the current scientific findings from linkage studies and susceptible genes and the pathophysiology of white matter in schizophrenia. The article has been reviewed in two parts. The first part deals with the linkage studies and susceptible genes in schizophrenia in order to have a clear-cut picture of the involvement of chromosomes and their genes in schizophrenia. The genetic linkage results seem to be replicated in some cases but in others are not. From these results, we cannot draw a fine map to a single locus or gene, leading to the conclusion that schizophrenia is not caused by a single factor/gene. In the second part of the article we present the oligodendrocyte-related genes that are associated with schizophrenia, as we hypothesize a potential role of oligodendrocyte-related genes in the pathology of the disorder.

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“…This is further corroborated by the fact that the first pregnancy of the patient, that did not have the molar phenotype showed paternal monosomy for this region. Furthermore, two cases of a liveborn child showing paternal UPD including this region have been published previously (Brzustowicz et al, 1994;Seal et al, 2006).…”

Section: Discussionmentioning

confidence: 92%