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. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:158-160, 2000.
authors.affiliation: MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom. k.evans@hgu.mrc.ac.uk
authors.forename: K L
authors.initials: KL
authors.lastname: Evans
authors.forename: D
authors.initials: D
authors.lastname: Lawson
authors.forename: T
authors.initials: T
authors.lastname: Meitinger
authors.forename: D H
authors.initials: DH
authors.lastname: Blackwood
authors.forename: D J
authors.initials: DJ
authors.lastname: Porteous
mesh_terms: D001714:Bipolar Disorder / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D006580:Genetic Carrier Screening; D008040:Genetic Linkage / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D014929:Wolfram Syndrome / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C114987:wolframin protein