51. Mutation screening of the Wolfram syndrome gene in psychiatric patients
- Author
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R Torres, Aglaia Athanassiadou, David A. Collier, Aggeliki Katrivanou, Stavroula Beratis, Mihael H. Polymeropoulos, E Leroy, Xun Hu, Adamantia Papachatzopoulou, and Philippos Gourzis
- Subjects
Psychosis ,medicine.medical_specialty ,Bipolar Disorder ,endocrine system diseases ,Wolfram syndrome ,Schizoaffective disorder ,Polymorphism, Single Nucleotide ,Frameshift mutation ,Cellular and Molecular Neuroscience ,Exon ,otorhinolaryngologic diseases ,medicine ,Humans ,Point Mutation ,Genetic Testing ,Bipolar disorder ,Psychiatry ,Molecular Biology ,Depression (differential diagnoses) ,Depressive Disorder, Major ,Membrane Proteins ,nutritional and metabolic diseases ,Wolfram Syndrome ,Exons ,medicine.disease ,eye diseases ,Protein Structure, Tertiary ,Psychiatry and Mental health ,Psychotic Disorders ,Schizophrenia ,Psychology ,Gene Deletion - Abstract
Wolfram syndrome, a rare autosomal recessive neurodegenerative disorder, was originally described as a combination of familial juvenile-onset diabetes mellitus and optic atrophy. It was later demonstrated that Wolfram syndrome patients were highly prone to psychiatric disorders. Mutations in exon 8 of the Wolfram syndrome gene account for 88% of the patients with Wolfram syndrome. To examine whether the gene responsible for causing Wolfram syndrome is involved in psychiatric disorders, we screened exon 8 of the Wolfram syndrome gene for mutations in 119 patients with schizophrenia, one patient with schizoaffective disorder, 12 patients with bipolar disorder and 15 patients with major depression, using sequence analysis. In Wolfram syndrome patients, this gene has been shown to have primarily nonsense or frameshift mutations, which would result in a premature truncation of the protein. None of the psychiatric patients screened in this study carried these types of mutations. We identified, however, 24 new variations whose significance remains to be determined.
- Published
- 2000
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