Duplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic

Copy Number Variation in Congenital Heart Defects

“…Furthermore, CNVs do not respect genetic boundaries, and the rearrangement of DNA can result in the truncation or partial duplication of some genes, often resulting in a nonfunctional product. The mechanisms of CNVs in disease have been discussed in more depth elsewhere [17][18][19][20].…”

PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1

“…Currently, research has been focused on the genetic and environmental modifying factors that can affect disease severity – . Direct PMP22 duplication/deletion testing with MLPA is currently the most appropriate and least expensive testing option for people who present with a demyelinating phenotype with MNCV of the median nerve of <38 m/s and a positive family history .…”

Structural variation mutagenesis of the human genome: Impact on disease and evolution

“…A novel consequence of reciprocal CNV and gene dosage is the concept of mirror traits. Other diseases will be defined, gene function delineated, and novel genetic mechanisms for both rare and common/complex disorders elucidated by CNV studies [Lupski et al, ; Riccardi and Lupski, ; Trivellin et al, ; Wu et al, ].…”

“…The duplication CNV (CMT1A duplication) and deletion CNV (HNPP deletion) products generated in haploid germ cells (below) are shown with novel breakpoint junctions observed (double headed horizontal black arrows). Note only one chromosome shown; in diploid cell duplication will result in three copies of PMP22; the complexity of genetic arithmetic [Riccardi and Lupski, 2013].…”