Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

Model explaining the potential impact of adjacent genomic features on gene-specific deletion carrier frequency. (A) Recessive disease gene without a nearby dominant disease gene (e.g., NPHP1). Most deletions encompassing this recessive disease gene do not also delete a dominant disease gene and are thus solely carrier deletions. (B) Recessive disease gene near to a haploinsufficient dominant disease gene (e.g., MYO15A and RAI1, respectively). Many deletions of the recessive disease gene also delete the dominant disease gene, rendering the individual a carrier and affected with dominant disease. This mutation is selected out of the population.