Mutation analysis of the C1QTNF3 gene in patients with schizophrenia.

We previously identified a small region on chromosome 5p13 related to schizophrenia in a Puerto Rican pedigree. We screened one of the positional candidate genes, C1QTNF3, for mutations in affected family members. The direct sequencing identified 10 sequence variants, including five shared by all affected family members. Genotyping of the shared variants in a Puerto Rican sample of 118 cases and 136 controls did not reveal either allelic or genotype association with schizophrenia.