2009/09/16 by M. Olad Nabi, Arash Mirabzadeh, G. Feizzadeh +6 · 12 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Calreticulin #Cardiomyopathy and Myosin Studies #Coding region #Endoplasmic Reticulum Stress and Disease #Exon #Gene #Genetics #Medicine #Mutation #Protein Tyrosine Phosphatases #Psychiatry #Psychosis #Schizoaffective disorder
paper · doi:10.1002/ajmg.b.31036
published in American Journal of Medical Genetics Part B Neuropsychiatric Genetics 153B(2), 706-709 (Wiley)
openalex publication_date 2009/09/16 · openalex created_date 2025/10/10 · openalex updated_date 2026/05/21
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.