Background: Schizophrenia (SCZ) and dementia, often related, are two of the most common neuropsychiatric diseases; epidemiological studies have shown that SCZ patients present a 2-fold increased risk for dementia compared to non-schizophrenic individuals. We explored the presence of rare and novel damaging gene variants in patients diagnosed with late-onset dementia of Alzheimer's type (DAT) or SCZ. Methods: We included 7 DAT and 12 SCZ patients and performed high-depth targeted sequencing of 184 genes. Results: We found novel and rare damaging variants in 18 genes in these Mexican patients. Carriers of these variants showed extreme phenotypes, including, treatment-resistant SCZ or cognitive decline. Furthermore, we found a variation on ABCC1 as a possible link between psychosis and cognitive impairment. Discussion: As an exploratory analysis, we report some interesting variations that should be corroborated in larger sample size studies.
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Martínez-Magaña, J. J., Genís-Mendoza, A. D., González-Covarrubias, V., Jiménez-Guenchi, J., Galindo-Chávez, A. G., Roche-Bergua, A., … Nicolini, H. (2019). Exploratory analysis of rare and novel variants in Mexican patients diagnosed with schizophrenia and dementia. Revista de Investigacion Clinica, 71(4), 246–254. https://doi.org/10.24875/RIC.19002923
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