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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Arginine / analogs & derivatives
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Arginine / blood
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Chromosome Deletion*
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Chromosomes, Human, Pair 22 / genetics
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DiGeorge Syndrome / complications
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DiGeorge Syndrome / genetics*
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Exotropia / complications
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Exotropia / genetics
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Female
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Frameshift Mutation
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Genetic Predisposition to Disease
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Homeodomain Proteins / genetics
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Humans
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Lactoylglutathione Lyase / genetics
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Lysine / analogs & derivatives
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Lysine / blood
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Polymerase Chain Reaction
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Schizophrenia / blood
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Schizophrenia / complications
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Schizophrenia / genetics*
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Transcription Factors / genetics
Substances
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Homeodomain Proteins
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NBPhox protein
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Transcription Factors
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Arginine
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pentosidine
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Lactoylglutathione Lyase
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Lysine