Mutational analysis of the wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder

K. L. Evans; D. Lawson; T. Meitinger; D. H.R. Blackwood; D. J. Porteous

doi:10.1002/(SICI)1096-8628(20000403)96:2<158::AID-AJMG6>3.0.CO;2-8

Mutational analysis of the wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder

K. L. Evans
, D. Lawson
, T. Meitinger
, D. H.R. Blackwood
, D. J. Porteous

Western General Hospital
University of Munich
University of Edinburgh

Research output: Contribution to journal › Article › peer-review

38 Scopus citations

Abstract

Bipolar affective disorder (BPAD) is a complex disease with a significant genetic component. Heterozygous carriers of Wolfram syndrome (WFS) are at increased risk of psychiatric illness. A gene for WFS (WFS1) has recently been cloned and mapped to chromosome 4p, in the general region we previously reported as showing linkage to BPAD. Here we present sequence analysis of the WFS1 coding sequence in five affected individuals from two chromosome 4p-linked families. This resulted in the identification of six polymorphisms, two of which are predicted to change the amino acid sequence of the WFS1 protein, however none of the changes segregated with disease status. (C) 2000 Wiley-Liss, Inc.

Original language	English
Pages (from-to)	158-160
Number of pages	3
Journal	American Journal of Medical Genetics - Neuropsychiatric Genetics
Volume	96
Issue number	2
DOIs	https://doi.org/10.1002/(SICI)1096-8628(20000403)96:2<158::AID-AJMG6>3.0.CO;2-8
State	Published - 3 Apr 2000
Externally published	Yes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Genetics
Psychiatric illness
Wolfram syndrome

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10.1002/(SICI)1096-8628(20000403)96:2<158::AID-AJMG6>3.0.CO;2-8

Cite this

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title = "Mutational analysis of the wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder",

abstract = "Bipolar affective disorder (BPAD) is a complex disease with a significant genetic component. Heterozygous carriers of Wolfram syndrome (WFS) are at increased risk of psychiatric illness. A gene for WFS (WFS1) has recently been cloned and mapped to chromosome 4p, in the general region we previously reported as showing linkage to BPAD. Here we present sequence analysis of the WFS1 coding sequence in five affected individuals from two chromosome 4p-linked families. This resulted in the identification of six polymorphisms, two of which are predicted to change the amino acid sequence of the WFS1 protein, however none of the changes segregated with disease status. (C) 2000 Wiley-Liss, Inc.",

keywords = "Genetics, Psychiatric illness, Wolfram syndrome",

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year = "2000",

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doi = "10.1002/(SICI)1096-8628(20000403)96:2<158::AID-AJMG6>3.0.CO;2-8",

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TY - JOUR

T1 - Mutational analysis of the wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder

AU - Evans, K. L.

AU - Lawson, D.

AU - Meitinger, T.

AU - Blackwood, D. H.R.

AU - Porteous, D. J.

PY - 2000/4/3

Y1 - 2000/4/3

N2 - Bipolar affective disorder (BPAD) is a complex disease with a significant genetic component. Heterozygous carriers of Wolfram syndrome (WFS) are at increased risk of psychiatric illness. A gene for WFS (WFS1) has recently been cloned and mapped to chromosome 4p, in the general region we previously reported as showing linkage to BPAD. Here we present sequence analysis of the WFS1 coding sequence in five affected individuals from two chromosome 4p-linked families. This resulted in the identification of six polymorphisms, two of which are predicted to change the amino acid sequence of the WFS1 protein, however none of the changes segregated with disease status. (C) 2000 Wiley-Liss, Inc.

AB - Bipolar affective disorder (BPAD) is a complex disease with a significant genetic component. Heterozygous carriers of Wolfram syndrome (WFS) are at increased risk of psychiatric illness. A gene for WFS (WFS1) has recently been cloned and mapped to chromosome 4p, in the general region we previously reported as showing linkage to BPAD. Here we present sequence analysis of the WFS1 coding sequence in five affected individuals from two chromosome 4p-linked families. This resulted in the identification of six polymorphisms, two of which are predicted to change the amino acid sequence of the WFS1 protein, however none of the changes segregated with disease status. (C) 2000 Wiley-Liss, Inc.

KW - Genetics

KW - Psychiatric illness

KW - Wolfram syndrome

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DO - 10.1002/(SICI)1096-8628(20000403)96:2<158::AID-AJMG6>3.0.CO;2-8

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AN - SCOPUS:0034599864

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Mutational analysis of the wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder

Abstract

UN SDGs

Keywords

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