title: Schizophrenia with the 22q11.2 deletion and additional genetic defects: case history.
abstract: The 22q11.2 deletion is the most prominent known genetic risk factor for schizophrenia, but its penetrance is at most approximately 50% suggesting that additional risk factors are required for disease progression. We examined a woman with schizophrenia with this deletion for such risk factors. She had high plasma pentosidine levels ('carbonyl stress') and a frameshift mutation in the responsible gene, GLO1. She also had a constant exotropia, so we examined the PHOX2B gene associated with both schizophrenia and strabismus, and detected a 5-alanine deletion. We propose that the combination of these genetic defects may have exceeded the threshold for the manifestation of schizophrenia.
authors: Laboratory for Molecular Psychiatry RIKEN Brain Science Institute, 2-1 Hirosawa, Wako-city, Saitama 351-0198, Japan.
authors: M
authors: M
authors: Toyosima
authors: M
authors: M
authors: Maekawa
authors: T
authors: T
authors: Toyota
authors: Y
authors: Y
authors: Iwayama
authors: M
authors: M
authors: Arai
authors: T
authors: T
authors: Ichikawa
authors: M
authors: M
authors: Miyashita
authors: T
authors: T
authors: Arinami
authors: M
authors: M
authors: Itokawa
authors: T
authors: T
authors: Yoshikawa
mesh_terms: D000328:Adult; D001120:Arginine / Q000031:analogs & derivatives / Q000097:blood; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004062:DiGeorge Syndrome / Q000150:complications / Q000235:genetics*; D005099:Exotropia / Q000150:complications / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D020022:Genetic Predisposition to Disease; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007791:Lactoylglutathione Lyase / Q000235:genetics; D008239:Lysine / Q000031:analogs & derivatives / Q000097:blood; D016133:Polymerase Chain Reaction; D012559:Schizophrenia / Q000097:blood / Q000150:complications / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors; D001120:Arginine; C062187:pentosidine; D007791:Lactoylglutathione Lyase; D008239:Lysine