Nature Medicine | Spoonful of Medicine

Database to help doctors grasp disease risk of duplications the genome

Copy number variations, in which a section of DNA is duplicated or deleted, have been a boon for geneticists hoping to explain the chromosomal causes of everything from autism to schizophrenia to colon cancer. CNVs that are deletions can be helpful in diagnosing a handful of developmental disorders and birth defects such as DiGeorge syndrome, an illness affecting skull formation in which a portion of chromosome 22 is missing. But when doctors find a CNV that is a duplication, they have difficulty knowing exactly which disorder their patient might have as a single duplicated region can cover multiple genes. For example, the clinical significance of rare duplication CNVs of the region including the gene DCLK2, which has been implicated in attention deficit hyperactivity disorder (ADHD), are often missed by lab technicians and physicians. 


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