• José J Martínez-Magaña, Alma D Genís-Mendoza, Vanessa González-Covarrubias, Janet Jiménez-Guenchi, Aidé G Galindo-Chávez, Andrés Roche-Bergua, Carlos Castañeda-González, Nuria Lanzagorta, Xavier Soberón, and Humberto Nicolini.
• Genomics Laboratory of Psychiatric and Neurodegenerative Diseases, Instituto Nacional de Medicina Genómica, Mexico City.
• Rev Invest Clin. 2019 Jan 1; 71 (4): 246-254.

BackgroundSchizophrenia (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.MethodsWe included 7 DAT and 12 SCZ patients and performed high-depth targeted sequencing of 184 genes.ResultsWe 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.DiscussionAs an exploratory analysis, we report some interesting variations that should be corroborated in larger sample size studies.Copyright: © 2019 Permanyer.

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