A frameshift mutation in Disrupted in Schizophrenia 1 in an American family with schizophrenia and schizoaffective disorder.

摘要: In a large Scottish pedigree, balanced translocation t(1;11)(q42.1;q14.3) segregates with major mental illness, including schizophrenia, bipolar disorder, and recurrent depression. The is predicted to result in the loss of C-terminal region protein product Disrupted SChizophrenia 1 (DISC1), gene located on 1q42.1. Since this initial discovery, DISC1 has been functionally implicated several processes, neurodevelopment. Based genetic functional evidence that may be associated we sequenced portions 28 unrelated probands schizophrenia six schizoaffective ascertained as part sibpair study. We detected 4 bp deletion at extreme 3′ end exon 12 proband schizophrenia. mutation was also present sib unaffected father, while not 424 control individuals. cause frameshift encode truncated nine abnormal amino acids. transcript detectable, but reduced level, lymphoblastoid cell lines from three four carriers. These findings are consistent possibility mutations can increase risk for related disorders.