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|dc.identifier.citation||American Journal of Medical Genetics. Part A, 2002; 114(3):343-346||en|
|dc.description||Published in American Journal of Medical Genetics, 2002; 114 (3):343-346 at www.interscience.wiley.com||en|
|dc.description.abstract||Wolfram syndrome (WFS) is a rare, autosomal recessive neurodegenerative disorder. An increased risk of psychiatric disorders and suicide has been reported for heterozygote carriers. In this study we investigated whether mutations in the WFS gene are associated with suicide in the general population. The gene for WFS (WFS1) has recently been mapped to chromosome 4p16.1, and its genomic structure has been characterized. We screened the entire WFS1 ORF in a panel of 100 completed suicides, 60 blood donors not known to have psychiatric illness, and 100 donors with a negative history of depression or suicidal behavior. We did not find evidence of an increased incidence of WFS carriers in the suicide panel and concluded that WFS1 carrier status is not a significant contributor to suicide in the general population. Screening of this highly polymorphic gene resulted in the detection of 33 variants, 13 of which cause amino acid changes. Seven of these changes have not been previously reported and six were unique to our suicide panel.||en|
|dc.description.statementofresponsibility||Joanna Crawford, Marta A. Zielinski, Laura J. Fisher, Grant R. Sutherland, Robert D. Goldney||en|
|dc.subject||Humans; Wolfram Syndrome; Membrane Proteins; DNA; DNA Mutational Analysis; Suicide; Gene Frequency; Heterozygote; Mutation, Missense; Point Mutation; Polymorphism, Single-Stranded Conformational; Polymorphism, Single Nucleotide; Alleles; Adult; Middle Aged||en|
|dc.title||Is there a relationship between Wolfram syndrome carrier status and suicide?||en|
|Appears in Collections:||Paediatrics publications|
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