Genetic and animal model analyses reveal the pathogenic role of a novel deletion of RELN in schizophrenia.

ABSTRACT: Reelin protein (RELN), an extracellular matrix protein, plays multiple roles that range from embryonic neuronal migration to spine formation in the adult brain. Results from genetic studies have suggested that RELN is associated with the risk of psychiatric disorders, including schizophrenia (SCZ). We previously identified a novel exonic deletion of RELN in a patient with SCZ. High-resolution copy number variation analysis revealed that this deletion included exons 52 to 58, which truncated the RELN in a similar manner to the Reln Orleans mutation (Reln^rl-Orl). We examined the clinical features of this patient and confirmed a decreased serum level of RELN. To elucidate the pathophysiological role of the exonic deletion of RELN in SCZ, we conducted behavioral and neurochemical an

SUBMITTER: Sobue A 

PROVIDER: S-EPMC6115412 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature