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Turner syndrome and schizophrenia: a further hint for the role of the X-chromosome in the pathogenesis of schizophrenic disorders


Roser, P; Kawohl, W (2010). Turner syndrome and schizophrenia: a further hint for the role of the X-chromosome in the pathogenesis of schizophrenic disorders. World Journal of Biological Psychiatry, 11(2):239-242.

Abstract

Abnormalities of sex chromosomes are associated with various forms of neuropsychiatric disorders, such as schizophrenia. Turner syndrome occurs approximately threefold more frequently in female schizophrenics compared to the general female population. A single case is reported. We report on a case of a 41-year-old woman with Turner syndrome, schizophrenia, mental retardation, and hypothyroidism. A polymorphism of the HOPA gene within Xq13 termed HOPA(12bp) is associated with schizophrenia, mental retardation, and hypothyroidism. Interestingly, Xq13 is the X-chromosome region that contains the X-inactivation center and a gene escaping X-inactivation whose gene product may be involved in the X-inactivation process as well as in the pathogenesis of sex chromosome anomalies such as Turner syndrome. These genes that escape X-inactivation may produce their gene products in excess, influencing normal brain growth and differentiation. Our case gives a further hint for an involvement of the X-chromosome in the pathogenesis of schizophrenia.

Abstract

Abnormalities of sex chromosomes are associated with various forms of neuropsychiatric disorders, such as schizophrenia. Turner syndrome occurs approximately threefold more frequently in female schizophrenics compared to the general female population. A single case is reported. We report on a case of a 41-year-old woman with Turner syndrome, schizophrenia, mental retardation, and hypothyroidism. A polymorphism of the HOPA gene within Xq13 termed HOPA(12bp) is associated with schizophrenia, mental retardation, and hypothyroidism. Interestingly, Xq13 is the X-chromosome region that contains the X-inactivation center and a gene escaping X-inactivation whose gene product may be involved in the X-inactivation process as well as in the pathogenesis of sex chromosome anomalies such as Turner syndrome. These genes that escape X-inactivation may produce their gene products in excess, influencing normal brain growth and differentiation. Our case gives a further hint for an involvement of the X-chromosome in the pathogenesis of schizophrenia.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Psychiatric University Hospital Zurich > Clinic for Clinical and Social Psychiatry Zurich West (former)
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2010
Deposited On:29 Jan 2009 07:41
Last Modified:05 Apr 2016 12:52
Publisher:Informa Healthcare
ISSN:1562-2975
Publisher DOI:https://doi.org/10.1080/15622970701599060
Official URL:http://informahealthcare.com/doi/abs/10.3109/15622970701599060?prevSearch=articletitlefield%253A%2528Turner%2Bsyndrome%2Band%2Bschizophrenia%2529&searchHistoryKey=
PubMed ID:18843566

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