title: Mutation in codon 713 of the beta amyloid precursor protein gene presenting with schizophrenia.
abstract: Following reports of mutations of codon 717 in exon 17 of the amyloid precursor protein (APP) gene in early-onset familial Alzheimer's disease, we screened exon 17 for new mutations in presenile dementia. The majority of the 105 patients screened had definite or probable Alzheimer's disease, but we also included atypical cases and some chronic schizophrenics. We identified a single abnormal case--a chronic schizophrenic with cognitive defects. Sequencing revealed a C to T nucleotide substitution which produces an alanine to valine change at codon 713. We were unable to detect the mutation in the remaining members of the original cohort nor in a further 100 chronic schizophrenics and 100 non-demented controls. Nonetheless, the position of the mutation in a critical portion of the APP gene suggests that it may well prove to be pathogenic.
authors.affiliation: Human Genetics Unit, University of Edinburgh, UK.
authors.forename: C T
authors.initials: CT
authors.lastname: Jones
authors.forename: S
authors.initials: S
authors.lastname: Morris
authors.forename: C M
authors.initials: CM
authors.lastname: Yates
authors.forename: A
authors.initials: A
authors.lastname: Moffoot
authors.forename: C
authors.initials: C
authors.lastname: Sharpe
authors.forename: D J
authors.initials: DJ
authors.lastname: Brock
authors.forename: D
authors.initials: D
authors.lastname: St Clair
mesh_terms: D000595:Amino Acid Sequence; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D016564:Amyloid beta-Protein Precursor; D003062:Codon; D009838:Oligodeoxyribonucleotides; D004247:DNA