Expanded (CAG)n, (CGG)n and (GAA)n trinucleotide repeat microsatellites, and mutant purine synthesis and pigmentation genes cause schizophrenia and autism.
Unstable (CAG)n trinucleotide repeat microsatellites are hypothesized to cause schizophrenia. The (CAG)n microsatellite of dominant spinal cerebellar ataxia type 1 (SCA1) is a candidate schizophrenia gene. Autism results from expansions of (CGG)n and (GAA)n trinucleotide repeat stretches at fragile X syndrome (FRAXA), and the recessive Friedreich's ataxia (FA). Dominant ataxia genes may cause schizophrenia and recessive ataxia genes may cause autism. Syndromes with autism show purine synthesis defects (PSDs) and/or pigmentation defects (PDs). Autism is caused by very lengthy expansions of (CAG)n, (CGG)n and (GAA)n repeats, while schizophrenia results from much smaller (CAG)n and (CGG)n repeat expansions.
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D000818:Animals; D001321:Autistic Disorder / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics; D005621:Friedreich Ataxia / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D008957:Models, Genetic; D010858:Pigmentation / Q000235:genetics*; D011687:Purines / Q000096:biosynthesis*; D012559:Schizophrenia / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
D011687:Purines