Identification of genetic variants of LGI1 and RTN4R (NgR1) linked to schizophrenia that are defective in NgR1–LGI1 signaling

ConclusionVariants in NgR1 and LGI1 may be associated with schizophrenia and variants in NgR1 found in schizophrenic patients have impaired LGI1–NgR1 signaling. Impaired LGI1–NgR1 signaling may contribute to disease progression. We screened two unrelated schizophrenic populations for variants in RTN4R and LGI1, and observed a previously reported rare coding variant in RTN4R (c.1195C>T, pR399W) and three novel LGI1 mutations were found, two missense mutations (c.205G>A, p.V69I) and (c.313G>A, V105M) and an intronic variant (g.897T>C) that likely leads to a protein truncation. Using cell‐based assays we found that coding variants of NgR1 have a reduced ability to bind LGI1 and that NgR1 mutants are impaired in their ability to mediate RhoA activation.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research