RGS3 and IL1RAPL1 missense variants implicate defective neurotransmission in early-onset inherited schizophrenias.

ABSTRACT:

Background

Schizophrenia is characterized by hallucinations, delusions and disorganized behaviour. Recessive or X-linked transmissions are rarely described for common psychiatric disorders. We examined the genetics of psychosis to identify rare large-effect variants in patients with extreme schizophrenia.

Methods

We recruited 2 consanguineous families, each with patients affected by early-onset, severe, treatment-resistant schizophrenia. We performed exome sequencing for all participants. We checked variant rarity in public databases and with ethnically matched controls. We performed in silico analyses to assess the effects of the variants on proteins.

Results

Structured clinical evaluations supported diagnoses of schizophrenia in all patients and phenotypic absence i

SUBMITTER: Kanwal A 

PROVIDER: S-EPMC9633053 | biostudies-literature | 2022 Nov-Dec

REPOSITORIES: biostudies-literature