Rxivist logo

Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 59,633 bioRxiv papers from 265,294 authors.

Enrichment of gene variants associated with treatable genetic disorders in psychiatric populations

By Venuja Sriretnakumar, Ricardo Harripaul, John B. Vincent, James L Kennedy, Joyce So

Posted 23 Mar 2018
bioRxiv DOI: 10.1101/287219

Purpose: Many genetic conditions can mimic mental health disorders, with psychiatric symptoms that are difficult to treat with standard psychotropic medications. This study tests the hypothesis that psychiatric populations are enriched for pathogenic variants associated with selected treatable genetic disorders. Methods: Using next-generation sequencing, 2046 psychiatric patients were screened for variants in genes associated with four inborn errors of metabolism (IEMs), Niemann-Pick disease type C (NPC), Wilson disease (WD), homocystinuria (HOM), and acute intermittent porphyria (AIP). Results: Among the 2046 cases, carrier rates of 0.83%, 0.98%, 0.20%, and 0.24% for NPC, WD, HOM, and AIP were seen respectively. An enrichment of known and likely pathogenic variants in the genes associated with NPC and AIP was found in the psychiatric cohort, and especially in schizophrenia patients. Conclusion: The results of this study support that rare genetic disease variants, such as those associated with IEMs, may contribute to the pathogenesis of psychiatric disorders. IEMs should be considered as possible causative factors for psychiatric presentations, especially in psychotic disorders, such as schizophrenia, and in the context of poor treatment response.

Download data

  • Downloaded 285 times
  • Download rankings, all-time:
    • Site-wide: 32,482 out of 59,633
    • In genetics: 2,067 out of 3,406
  • Year to date:
    • Site-wide: 36,757 out of 59,633
  • Since beginning of last month:
    • Site-wide: 31,274 out of 59,633

Altmetric data

Downloads over time

Distribution of downloads per paper, site-wide

Sign up for the Rxivist weekly newsletter! (Click here for more details.)