Researchers Pinpoint Gene Mutations Responsible for 10 Percent of Schizophrenia

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A. Genetic mutations that result in fewer than two (middle offspring) or more than two (right offspring) genomic copies of a chromosomal region are present in individuals who have schizophrenia but not present in their biological parents who do not h ...
A. Genetic mutations that result in fewer than two (middle offspring) or more than two (right offspring) genomic copies of a chromosomal region, are present in individuals who have schizophrenia, but not present in their biological parents who do not have the disease. For comparison, a family with an unaffected offspring is indicated at the left. B. A schematic representation of a spontaneous copy number mutation found in one individual with schizophrenia. This mutation results in loss of genes, including a gene affecting neurodevelopment (EPHB1). Credit: P. Alexander Arguello, © Columbia University Medical Center, May 2008

Scans of the genome of patients with schizophrenia have revealed rare spontaneous copy number mutations that account for at least 10 percent of the non-familial cases of the disease. Researchers describe specific genetic mutations present in individuals who have schizophrenia, but not present in their biological parents who do not have the disease.


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