title: Novel mutations in the calreticulin gene core promoter and coding sequence in schizoaffective disorder.
abstract: We have recently reported the first case of mutation in the core promoter sequence of the human calreticulin gene in a family case of schizoaffective disorder. Remarkably, this gene coincides with a region of suggested linkage at 19p13.2, identified in a whole genome scan [Hamshere et al. (2005); Arch Gen Psychiatry 62;1081-1088]. The identified mutation was located at the conserved position -48 from the transcription start site, and was shown to be of functional effect, resulting in the aberrant expression of the gene. Following screening of the gene in 60 independent cases of schizoaffective disorder, we report novel germ-line mutations at positions -205 C > T and the conserved exon 5 (c: 682 C > T, pro228ser) in two unrelated cases of schizoaffective disorder. These mutations were disease-specific, and as for the -48 G > C mutation, neither was detected in a control population of 370 individuals, indicating a contribution of 3.17% in this sample series. To our knowledge, this is the first instance of disease-specific mutations in schizoaffective disorder, which warrants systematic screening of the regulatory and coding regions of the calreticulin gene in this disorder.
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Evin, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Olad Nabi
authors.affiliation: Department of Psychiatry, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Mirabzadeh
authors.affiliation: Department of Psychiatry, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: G
authors.initials: G
authors.lastname: Feizzadeh
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Evin, Tehran, Iran.
authors.forename: H R
authors.initials: HR
authors.lastname: Khorram Khorshid
authors.affiliation: Department of Biostatistics, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Karimlou
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Evin, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Zarif Yeganeh
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Evin, Tehran, Iran.
authors.forename: A M
authors.initials: AM
authors.lastname: Asgharian
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Evin, Tehran, Iran.
authors.forename: H
authors.initials: H
authors.lastname: Najmabadi
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Evin, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Ohadi
mesh_terms: D001665:Binding Sites; D037282:Calreticulin / Q000235:genetics*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D006801:Humans; D007492:Iran; D008957:Models, Genetic; D009154:Mutation; D011401:Promoter Regions, Genetic; D011618:Psychotic Disorders / Q000235:genetics*
chemical_list: D037282:Calreticulin; D017931:DNA Primers