Copy Number Variation Disorders

Current Genetic Medicine Reports
Tamim H Shaikh

Abstract

Copy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications or other genomic rearrangements that lead to the loss or gain of genetic material. Several disorders, characterized by multiple birth defects and neurodevelopmental abnormalities, have been associated with relatively large (>1 Mb) and often recurrent CNVs. CNVs have also been implicated in the etiology of neuropsychiatric disorders including autism and schizophrenia as well as other common complex diseases. Thus, CNVs have a significant impact on human health and disease. The use of increasingly higher resolution, genomewide analysis has greatly enhanced the detection of genetic variation, including CNVs. Furthermore, the availability of comprehensive genetic variation data from large cohorts of healthy controls has the potential to greatly improve the identification of disease associated genetic variants in patient samples. This review discusses the current knowledge about CNV disorders, including the mechanisms underlying their formation and phenotypic outcomes, and the advantages and limitations of current methods of detection and disease association.

References

Mar 10, 2001·Nature·E S LanderInternational Human Genome Sequencing Consortium
Oct 5, 2001·Nature Reviews. Genetics·B S Emanuel, Tamim H Shaikh
Aug 10, 2002·Science·Jeffrey A BaileyEvan E Eichler
Sep 7, 2002·Science·Geoffrey R WellerAidan J Doherty
Jun 11, 2003·American Journal of Human Genetics·Mònica BayésLuis A Pérez Jurado
Nov 1, 2003·Science·Andrew B SingletonK Gwinn-Hardy
Jul 27, 2004·Science·J SebatMichael Wigler
Aug 3, 2004·Nature Genetics·A John IafrateCharles Lee
Sep 24, 2004·DNA Repair·Eric Weterings, D C van Gent
May 27, 2005·American Journal of Human Genetics·A J SharpEvan E Eichler
Dec 6, 2005·Nature Genetics·Donald F ConradJonathan K Pritchard
Jan 19, 2006·Nature Reviews. Genetics·Lars FeukStephen W Scherer
Jan 27, 2006·Human Molecular Genetics·Jane GibsonAndrew Collins
Feb 10, 2006·Nature Genetics·Steven A McCarrollInternational HapMap Consortium
Jun 14, 2006·Nature Reviews. Genetics·Jeffrey A Bailey, Evan E Eichler
Sep 7, 2006·Human Mutation·Ling-Hui LiYuan-Tsong Chen
Nov 24, 2006·Nature·Richard RedonMatthew E Hurles
Mar 17, 2007·Science·J SebatMichael Wigler
Aug 21, 2007·Nature Genetics·Blake C BallifLisa G Shaffer
Oct 10, 2007·American Journal of Human Genetics·Heather C MeffordChristine Bellanne-Chantelot
Dec 11, 2007·Oncogene·D C van Gent, M van der Burg
Jan 9, 2008·American Journal of Human Genetics·Shay Ben-ShacharAnkita Patel
Apr 17, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Zhishuo OuAnkita Patel
Apr 23, 2008·Current Protocols in Human Genetics·J T den Dunnen, S J White
May 3, 2008·Nature·Jeffrey M KiddEvan E Eichler
Jun 24, 2008·Annals of Neurology·Owen A RossMatthew J Farrer
Aug 1, 2008·Nature·International Schizophrenia Consortium
Aug 1, 2008·Nature·Hreinn StefanssonKari Stefansson
Mar 14, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Marwan K TayehMadhuri Hegde
May 16, 2009·Human Molecular Genetics·M Katharine RuddChrista Lese Martin
Oct 9, 2009·Nature·Donald F ConradMatthew E Hurles
Oct 22, 2009·Brain : a Journal of Neurology·Carolien G F de KovelThomas Sander
Jan 12, 2010·Annual Review of Medicine·Paweł Stankiewicz, James R Lupski
Jan 12, 2010·Methods : a Companion to Methods in Enzymology·Barbara D'haeneJan Hellemans
Jan 19, 2010·Methods : a Companion to Methods in Enzymology·Suzanne WeaverKenneth J Livak
Jan 20, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Stuart A ScottLisa Edelmann
Feb 16, 2010·Nature Genetics·Santhosh GirirajanEvan E Eichler

Citations

Mar 20, 2020·American Journal of Medical Genetics. Part a·Kendall J BurdickUndiagnosed Diseases Network
May 28, 2019·Molecular Cytogenetics·Tigran HarutyunyanRouben Aroutiounian
May 13, 2020·Biology Methods and Protocols·Monica ChagoyenFlorencio Pazos
Nov 25, 2020·Scientific Reports·Tatiana A Gurbich, Valery Vladimirovich Ilinsky
May 7, 2021·Proceedings of the National Academy of Sciences of the United States of America·William N WilliamScott M Lippman
Jun 4, 2021·Current Opinion in Genetics & Development·Michael Mortillo, Jennifer G Mulle

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