An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders

Clinica Chimica Acta; International Journal of Clinical Chemistry
Julio Rodriguez-LopezJavier Costas

Abstract

Several recurrent copy number variants (CNVs) increasing risk to neuropsychiatric diseases have been identified in recent years. They show variable clinical expressivity, being associated with different disorders, and incomplete penetrance. However, due to its very low frequency, the full variety of clinical outcomes associated with each one of these CNVs is unknown. Current methods for detection of CNVs are labor intensive, expensive or not suitable for high throughput analysis. Quantitative interspecies competitive PCR linked to variant minisequencing and detection by mass-spectrometry may overcome these limitations. Here, we present two multiplex assays based on this method to screen for eleven psychiatric risk CNVs, such as 1q21, 16p11.2, 3q29, or 16p13.11 regions, among others. The assays were tested in our collection of 514 schizophrenia patients. Results were compared with MLPA at two CNVs. Additional positive results were confirmed by exome sequencing. A total of fourteen patients were CNV carriers. The method presents high sensitivity and specificity, showing its utility as a cheap, accurate, high throughput screening tool for recurrent CNVs. The method may be very useful for management of psychiatric patients as well ...Continue Reading

References

Aug 1, 2008·Nature·Hreinn StefanssonKari Stefansson
Aug 14, 2008·Nucleic Acids Research·Nigel M WilliamsMichael C O'Donovan
Oct 9, 2009·Nature·Donald F ConradMatthew E Hurles
Aug 23, 2011·Annual Review of Genetics·Santhosh GirirajanEvan E Eichler
Aug 23, 2011·Biological Psychiatry·Elliott ReesGeorge Kirov
Nov 15, 2011·Biological Psychiatry·Noa CarreraJavier Costas
Mar 20, 2012·Cell·Dheeraj Malhotra, Jonathan Sebat
Aug 23, 2012·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Maarten J Van Den BosscheJurgen Del-Favero
Sep 14, 2012·The New England Journal of Medicine·Santhosh GirirajanEvan E Eichler
Jan 18, 2013·JAMA Psychiatry·Saurav GuhaUNKNOWN Wellcome Trust Case Control Consortium 2
Jul 31, 2013·The American Journal of Psychiatry·Elliot S Gershon, Ney Alliey-Rodriguez
Sep 3, 2013·Biological Psychiatry·George KirovMichael J Owen
Oct 10, 2013·European Journal of Human Genetics : EJHG·Maria TropeanoDavid A Collier
Nov 13, 2013·Molecular Psychiatry·E ReesM J Owen
Dec 7, 2013·The British Journal of Psychiatry : the Journal of Mental Science·Elliott ReesGeorge Kirov
May 16, 2014·European Journal of Human Genetics : EJHG·Maria TropeanoDavid A Collier

❮ Previous
Next ❯

Citations

Apr 20, 2017·European Archives of Psychiatry and Clinical Neuroscience·Julio Rodríguez-LópezJavier Costas
Jan 7, 2020·Mass Spectrometry Reviews·Jia-Jia CuiJi-Ye Yin

❮ Previous
Next ❯

Related Concepts

Related Feeds

22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.