Preliminary studies on apparent mendelian psychotic disorders in consanguineous families

Ambreen Kanwal, Sohail A. Sheikh, Amina Iftikhar, Sadaf Naz, José V. Pardo

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Background: Psychiatric disorders are characterized by alteration in emotions, mood and behavior. Genetics is known to play a significant role in the development of psychiatric disorders. Genome-wide association studies have identified several loci associated with psychiatric illnesses. We hypothesize the existence of rare variants following Mendelian recessive mode of inheritance. These variants can be identified in families with multiple affected individuals born to unaffected consanguineous parents. Methods: We visited psychiatric outpatient departments of multiple hospitals in Lahore, Pakistan. We focused on psychosis, as it can occur in several DSM disorders such as schizophrenia, dementia and bipolar disorder. After clinical diagnosis by an American trained psychiatrist, detailed clinical assessments using Diagnostic Interview for Genetic Studies (DIGS), Diagnostic Interview for Psychosis and Affective Disorders (DI-PAD), Positive and Negative Syndrome Scale (PANSS), Hamilton Depression and Anxiety Rating Scale (HAM-D; HAM-A) were administered to all willing affected and unaffected participants. Results: We identified eight pedigrees with two or more psychotic individuals in each family. Clinical diagnoses determined by their psychiatrists included ten individuals with schizophrenia; four individuals with psychosis and bipolar disorder; and two patients with “unspecified psychosis.” The rating instruments rigorously confirmed the diagnosis of psychosis in the affected patients from the six families as well as the absence of psychotic disorders in unaffected individuals from the six families. We obtained DNA samples from willing members of all eight families for future genetic analyses. Conclusion: Our research highlights an alternative approach to discovery of rare recessively inherited genetic variants causing psychiatric disorders that have remained unidentified to date. These findings could illuminate underlying biological mechanisms leading toward development of targeted therapies in future.

Original languageEnglish (US)
Article number709
JournalBMC Psychiatry
Issue number1
StatePublished - Dec 2022

Bibliographical note

Funding Information:
This work was supported by NIH USA Grant: 1R21MH120692-01A1 (JVP, SN) and in part by the Psychiatry Department, Hawkes Bay DHB, Hastings, New Zealand (SAS).

Publisher Copyright:
© 2022, The Author(s).


  • Bipolar disorder
  • Consanguinity
  • Genetics
  • Homozygosity
  • Pakistan
  • Psychosis
  • Schizophrenia


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